Varaico: Literature-Extracted Genetic Variants

Gene:RIN2
Variant:p.E626_N627insFs

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.E626_N627insFs
c.1878_1879insC
Surrounding Variants
2 papers
NM_001242581.2
p.E687fs
c.2059_2060fs
4 papers
NM_018993.4
p.E638_L639delFs
c.1914_1915delGC
NM_001242581.2
p.E687_L688delFs
c.2061_2062delGC
1 paper
NM_018993.4
p.A609_M610insFs
c.1827_1828insG
1 paper
NM_018993.4
p.P646delFs
c.1938delT
1 paper
NM_018993.4
p.Y665C
c.1994A>G
1 paper
NM_018993.4
p.M672K
c.2015T>A
1 paper
NM_018993.4
p.D696A
c.2087A>C
1 paper
NM_018993.4
p.P700A
c.2098C>G
1 paper
NM_001242581.2
p.L751insFs
c.2251dupC
1 paper
NM_001242581.2
p.L751fs
c.2251_2252fs
1 paper
NM_018993.4
p.Q708_E713del6
c.2122_2138del18
1 paper
NM_018993.4
p.M721L
c.2161A>C
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