Varaico: Literature-Extracted Genetic Variants

Gene:RILP

RILP

108 papers

RefSeq Summary

This gene encodes a lysosomal protein that interacts with RAB7, a small GTPase that controls transport to endocytic degradative compartments. Studies using mutant forms of the two proteins suggest tha...

Pfam Domains

RH1aa 27–100UCSCRILP homology 1 domain
RILPaa 244–312UCSCRab interacting lysosomal protein

Gene Aliases

HGNC Name

Rab interacting lysosomal protein

HGNC Alias Symbol

FLJ31193

Papers
RefSeq ID
Protein change
DNA change
1–12 of 36 variants
11 papers
NM_031430.3
p.Q67L
c.200A>T
2 papers
NM_031430.3
p.G20E
c.59G>A
2 papers
NM_031430.3
p.A270V
c.809C>T
2 papers
NM_031430.3
p.G284S
c.850G>A
2 papers
NM_031430.3
p.R295Q
c.884G>A
1 paper
NM_031430.3
p.G14E
c.41G>A
1 paper
NM_031430.3
p.G14insFs
c.42dupG
1 paper
NM_031430.3
p.R16W
c.46C>T
1 paper
NM_031430.3
p.G33R
c.97G>C
1 paper
NM_031430.3
p.G33R
c.97G>A
1 paper
NM_031430.3
p.L42P
c.125T>C
1 paper
NM_031430.3
p.S80W
c.239C>G
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