RAB6B

Chr 3

RAB6B, member RAS oncogene family

NCBI Gene: 51560 ENSG00000154917 UniProt: Q9NRW1 OMIM: 615852

Enables G protein activity and myosin V binding activity. Involved in Golgi organization and protein localization to Golgi membrane. Located in Golgi membrane. [provided by Alliance of Genome Resources, Jun 2026]

OMIM Research

OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.33

LOEUF· LoF intol.

Multiple*

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

LoF intolerant — likely haploinsufficient

LoF Constraint?

0.33LOEUF

pLI 0.959

Z-score 3.27

OE 0.07 (0.02–0.33)

Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint?

2.49Z-score

OE missense 0.40 (0.32–0.50)

55 obs / 137.0 exp

Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?

LoF OE?0.07 (0.02–0.33)

0≤0.351.4

Missense OE?0.40 (0.32–0.50)

0≤0.61.4

Synonymous OE?1.04

0≤1.21.6

LoF obs/exp: 1 / 14.4Missense obs/exp: 55 / 137.0Syn Z: -0.21

Background carrier burden — how many people carry a rare variant somewhere in RAB6B?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 390

203 rare PASS variants

Rare truncating (LoF)

1 in 6,500

31 rare PASS variants

Rare synonymous (reference)

1 in 360

121 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for RAB6B. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 420	1 in 11,000
South Asian	~43k	1 in 470	1 in 5,200
Remaining (unassigned)	~30k	1 in 310	≈ 1 in 30,000
European (Finnish)	~27k	1 in 1,500	1 in 3,300
Admixed American	~22k	1 in 270	≈ 1 in 17,000
African / African American	~21k	1 in 320	1 in 2,400
East Asian	~20k	1 in 290	none seen
Ashkenazi Jewish	~13k	1 in 2,100	1 in 1,500
Middle Eastern	~2,884	1 in 450	none seen

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): All 8 coding exons well covered in gnomAD exomes and genomes.? see exons ↓