RPH3AL

Chr 17

rabphilin 3A like (without C2 domains)

Also known as: NOC2

The protein encoded by this gene plays a direct regulatory role in calcium-ion-dependent exocytosis in both endocrine and exocrine cells and plays a key role in insulin secretion by pancreatic cells. This gene is likely a tumor suppressor. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jun 2010]

ResearchGenerating clinical summary…
0
Active trials
1
Pubs (1 yr)
P/LP submissions
P/LP missense
1.41
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?
1.41LOEUF
pLI 0.000
Z-score 0.19
OE 0.95 (0.661.41)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.31Z-score
OE missense 1.07 (0.951.20)
192 obs / 180.1 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.95 (0.661.41)
00.351.4
Missense OE?1.07 (0.951.20)
00.61.4
Synonymous OE?0.98
01.21.6
LoF obs/exp: 18 / 18.9Missense obs/exp: 192 / 180.1Syn Z: 0.13

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

RPH3AL · 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.

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