Varaico: Literature-Extracted Genetic Variants

Gene:RILP
Variant:p.E157Q

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
1 paper
NM_031430.3
p.E157Q
c.469G>C
Surrounding Variants
1 paper
NM_031430.3
p.E157K
c.469G>A
1 paper
NM_031430.3
p.E157A
c.470A>C
1 paper
NM_031430.3
p.A156T
c.466G>A
1 paper
NM_031430.3
p.L151H
c.452T>A
1 paper
NM_031430.3
p.R195Q
c.584G>A
1 paper
NM_031430.3
p.Q136P
c.407A>C
1 paper
NM_031430.3
p.Q115K
c.343C>A
1 paper
NM_031430.3
p.S80W
c.239C>G
1 paper
NM_031430.3
p.G233W
c.697G>T
11 papers
NM_031430.3
p.Q67L
c.200A>T
1 paper
NM_031430.3
p.E257*
c.769G>T
2 papers
NM_031430.3
p.A270V
c.809C>T
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