Varaico: Literature-Extracted Genetic Variants

Gene:RPH3A
Variant:p.R43T

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
2 papers
NM_001143854.2
p.R43T
c.128G>C
Surrounding Variants
1 paper
NM_001143854.2
p.E49K
c.145G>A
1 paper
NM_001143854.2
p.P37H
c.110C>A
1 paper
NM_001143854.2
p.S34S
c.102C>T
2 papers
NM_001143854.2
p.V61A
c.182T>C
1 paper
NM_001143854.2
p.E70A
c.209A>C
1 paper
NM_001143854.2
p.E72V
c.215A>T
2 papers
NM_001143854.2
p.Q73H
c.219G>C
2 papers
NM_001143854.2
p.Q73H
c.219G>T
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