Varaico: Literature-Extracted Genetic Variants

Gene:RIN2
Variant:p.A205T

RIN2

71 papers

RefSeq Summary

The RAB5 protein is a small GTPase involved in membrane trafficking in the early endocytic pathway. The protein encoded by this gene binds the GTP-bound form of the RAB5 protein preferentially over th...

Pfam Domains

RIN1aa 513–607UCSCRIN1-like domain
VPS9aa 651–753UCSCVacuolar sorting protein 9 (VPS9) domain
RAaa 787–878UCSCRas association (RalGDS/AF-6) domain

Gene Aliases

HGNC Name

Ras and Rab interactor 2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_018993.4
p.A205T
c.613G>A
Surrounding Variants
1 paper
NM_018993.4
p.Q200delFs
c.600delG
2 papers
NM_018993.4
p.S197T
c.589T>A
1 paper
NM_018993.4
p.P215A
c.643C>G
1 paper
NM_018993.4
p.C236_A238del0
c.708_713del6
1 paper
NM_018993.4
p.P237S
c.709C>T
1 paper
NM_018993.4
p.I252delFs
c.754delA
1 paper
NM_018993.4
p.N266I
c.797A>T
1 paper
NM_018993.4
p.T295T
c.885T>A
1 paper
NM_018993.4
p.P296P
c.888C>A
1 paper
NM_018993.4
p.M334delFs
c.1002delG
1 paper
NM_018993.4
p.P335R
c.1004C>G
1 paper
NM_018993.4
p.P349S
c.1045C>T
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