Varaico: Literature-Extracted Genetic Variants

Gene:RIN2
Variant:p.M448T

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.M448T
c.1343T>C
Surrounding Variants
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
1 paper
NM_018993.4
p.S433delFs
c.1298delG
1 paper
NM_018993.4
p.S430_M432del3
c.1288_1295del9
1 paper
NM_018993.4
p.P475insFs
c.1425dupC
1 paper
NM_018993.4
p.P475T
c.1423C>A
1 paper
NM_018993.4
p.P405L
c.1214C>T
1 paper
NM_018993.4
p.G397_G398ins8
c.1189_1193ins24
1 paper
NM_018993.4
p.E389G
c.1166A>G
1 paper
NM_018993.4
p.P386S
c.1156C>T
1 paper
NM_018993.4
p.A384G
c.1151C>G
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