SLC18B1

Chr 6

solute carrier family 18 member B1

Also known as: C6orf192, VPAT, dJ55C23.6

This gene encodes a protein, which has high sequence similarity to rat, xenopus and zebrafish proteins. The protein function is unknown. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…
0
Active trials
3
Pubs (1 yr)
P/LP submissions
P/LP missense
1.51
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.51LOEUF
pLI 0.000
Z-score -0.35
OE 1.08 (0.791.51)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.38Z-score
OE missense 1.07 (0.961.19)
255 obs / 238.3 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.08 (0.791.51)
00.351.4
Missense OE?1.07 (0.961.19)
00.61.4
Synonymous OE?1.08
01.21.6
LoF obs/exp: 25 / 23.2Missense obs/exp: 255 / 238.3Syn Z: -0.63

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

SLC18B1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →