Varaico: Literature-Extracted Genetic Variants

Gene:RIN2

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
1–12 of 109 variants
4 papers
NM_018993.4
p.P577delFs
c.1731delC
3 papers
NM_018993.4
p.I578fs
c.1732_1733fs
3 papers
NM_018993.4
p.E638_L639delFs
c.1914_1915delGC
2 papers
NM_018993.4
p.S26L
c.77C>T
2 papers
NM_018993.4
p.P143S
c.427C>T
2 papers
NM_018993.4
p.S197T
c.589T>A
2 papers
NM_018993.4
p.M448I
c.1344G>A
2 papers
NM_018993.4
p.M448I
c.1344G>C
2 papers
NM_018993.4
p.M448I
c.1344G>T
2 papers
NM_001242581.2
p.P626insFs
c.1878dupC
2 papers
NM_001242581.2
p.P626delFs
c.1878delC
2 papers
NM_001242581.2
p.I627fs
c.1879_1880fs
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."