Varaico: Literature-Extracted Genetic Variants

Gene:RPH3A
Variant:p.V464L

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
Selected Variant
3 papers
NM_001143854.2
p.V464L
c.1390G>C
Surrounding Variants
1 paper
NM_001143854.2
p.V464M
c.1390G>A
3 papers
NM_001143854.2
p.V464L
c.1390G>T
1 paper
NM_001143854.2
p.G467S
c.1399G>A
1 paper
NM_001143854.2
p.R452W
c.1354C>T
3 papers
NM_001143854.2
p.T450S
c.1349C>G
3 papers
NM_001143854.2
p.T450S
c.1348A>T
1 paper
NM_001143854.2
p.R447C
c.1339C>T
1 paper
NM_001143854.2
p.Y431Y
c.1293C>T
1 paper
NM_001143854.2
p.G426S
c.1276G>A
1 paper
NM_001143854.2
p.G418S
c.1252G>A
1 paper
NM_001143854.2
p.K415N
c.1245G>T
1 paper
NM_001143854.2
p.T412S
c.1235C>G
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