Varaico: Literature-Extracted Genetic Variants

Gene:RPH3AL

RPH3AL

30 papers

RefSeq Summary

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. ...

Pfam Domains

FYVE_2aa 45–159UCSCFYVE-type zinc finger

Gene Aliases

HGNC Name

rabphilin 3A like (without C2 domains)

HGNC Alias Symbol

Noc2

Papers
RefSeq ID
Protein change
DNA change
1–12 of 33 variants
2 papers
NM_006987.4
p.E51A
c.152A>C
2 papers
NM_006987.4
p.A303V
c.908C>T
1 paper
NM_006987.4
p.G7G
c.21C>G
1 paper
NM_006987.4
p.S8S
c.24C>T
1 paper
NM_006987.4
p.R19L
c.56G>T
1 paper
NM_006987.4
p.T38A
c.112A>G
1 paper
NM_006987.4
p.P49Q
c.146C>A
1 paper
NM_006987.4
p.V58A
c.173T>C
1 paper
NM_006987.4
p.D66N
c.196G>A
1 paper
NM_006987.4
p.E69K
c.205G>A
1 paper
NM_006987.4
p.G74Splc
c.221+8G>A
1 paper
NM_006987.4
p.C98*
c.294C>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."