Varaico: Literature-Extracted Genetic Variants

Gene:RPH3A
Variant:p.R235S

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.R235S
c.705G>C
Surrounding Variants
2 papers
NM_001143854.2
p.R235S
c.705G>T
1 paper
NM_001143854.2
p.R226Q
c.677G>A
2 papers
NM_001143854.2
p.G255R
c.763G>A
2 papers
NM_001143854.2
p.G255R
c.763G>C
1 paper
NM_001143854.2
p.S260T
c.778T>A
1 paper
NM_001143854.2
p.R262W
c.784C>T
1 paper
NM_001143854.2
p.K215R
c.644A>G
1 paper
NM_001143854.2
p.P212S
c.634C>T
2 papers
NM_001143854.2
p.R209K
c.626G>A
1 paper
NM_001143854.2
p.G204Splc
c.611-8T>G
1 paper
NM_001143854.2
p.K151E
c.451A>G
1 paper
NM_001143854.2
p.E148D
c.444G>C
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