Varaico: Literature-Extracted Genetic Variants

Gene:RPH3A

RPH3A

79 papers

RefSeq Summary

The protein encoded by this gene is thought to be an effector for RAB3A, which is a small G protein that acts in the late stages of neurotransmitter exocytosis. The encoded protein may be involved in ...

Pfam Domains

FYVE_2aa 48–161UCSCFYVE-type zinc finger
C2aa 407–516UCSCC2 domain
C2aa 565–671UCSCC2 domain

Gene Aliases

HGNC Name

rabphilin 3A

HGNC Alias Symbols

KIAA0985; rabphilin; exophilin-1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 68 variants
3 papers
NM_001143854.2
p.T450S
c.1348A>T
3 papers
NM_001143854.2
p.T450S
c.1349C>G
3 papers
NM_001143854.2
p.V464L
c.1390G>C
3 papers
NM_001143854.2
p.V464L
c.1390G>T
2 papers
NM_001143854.2
p.R43T
c.128G>C
2 papers
NM_001143854.2
p.V61A
c.182T>C
2 papers
NM_001143854.2
p.Q73H
c.219G>C
2 papers
NM_001143854.2
p.Q73H
c.219G>T
2 papers
NM_001143854.2
p.R209K
c.626G>A
2 papers
NM_001143854.2
p.R235S
c.705G>C
2 papers
NM_001143854.2
p.R235S
c.705G>T
2 papers
NM_001143854.2
p.G255R
c.763G>A
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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."