Varaico: Literature-Extracted Genetic Variants

Gene:RILP
Variant:p.Q67L

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
Selected Variant
11 papers
NM_031430.3
p.Q67L
c.200A>T
Surrounding Variants
1 paper
NM_031430.3
p.L42P
c.125T>C
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.S80W
c.239C>G
2 papers
NM_031430.3
p.G20E
c.59G>A
1 paper
NM_031430.3
p.R16W
c.46C>T
1 paper
NM_031430.3
p.G14insFs
c.42dupG
1 paper
NM_031430.3
p.G14E
c.41G>A
1 paper
NM_031430.3
p.Q115K
c.343C>A
1 paper
NM_031430.3
p.Q136P
c.407A>C
1 paper
NM_031430.3
p.L151H
c.452T>A
1 paper
NM_031430.3
p.A156T
c.466G>A
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