Varaico: Literature-Extracted Genetic Variants

Gene:RPH3A
Variant:p.G305R

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
1 paper
NM_001143854.2
p.G305R
c.913G>C
Surrounding Variants
1 paper
NM_001143854.2
p.G305R
c.913G>A
1 paper
NM_001143854.2
p.A307S
c.919G>T
1 paper
NM_001143854.2
p.G295Splc
c.884-69G>A
2 papers
NM_001143854.2
p.R269Q
c.806G>A
1 paper
NM_001143854.2
p.G323E
c.968G>A
2 papers
NM_001143854.2
p.R348*
c.1042C>T
1 paper
NM_001143854.2
p.A363V
c.1088C>T
1 paper
NM_001143854.2
p.T412S
c.1234A>T
1 paper
NM_001143854.2
p.T412S
c.1235C>G
1 paper
NM_001143854.2
p.K415N
c.1245G>T
1 paper
NM_001143854.2
p.R262W
c.784C>T
1 paper
NM_001143854.2
p.S260T
c.778T>A
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