Varaico: Literature-Extracted Genetic Variants

Gene:RIN2
Variant:p.P143S

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
2 papers
NM_018993.4
p.P143S
c.427C>T
Surrounding Variants
1 paper
NM_018993.4
p.L144del1
c.430_432delCTC
1 paper
NM_018993.4
p.K145*
c.433A>T
1 paper
NM_018993.4
p.S133insFs
c.397_398ins8
1 paper
NM_018993.4
p.H122Y
c.364C>T
1 paper
NM_018993.4
p.I118V
c.352A>G
1 paper
NM_018993.4
p.I118delFs
c.353_354delTC
1 paper
NM_018993.4
p.P116S
c.346C>T
1 paper
NM_018993.4
p.S103G
c.307A>G
1 paper
NM_018993.4
p.L100_S101insA
c.298_302ins3
1 paper
NM_018993.4
p.L90F
c.268C>T
1 paper
NM_018993.4
p.D78_S79insC
c.232_236ins3
1 paper
NM_018993.4
p.R73Q
c.218G>A
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