Varaico: Literature-Extracted Genetic Variants

Gene:RILP
Variant:p.A270V

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
2 papers
NM_031430.3
p.A270V
c.809C>T
Surrounding Variants
1 paper
NM_031430.3
p.Y271F
c.812A>T
1 paper
NM_031430.3
p.Y271S
c.812A>C
1 paper
NM_031430.3
p.E257*
c.769G>T
1 paper
NM_031430.3
p.G233W
c.697G>T
2 papers
NM_031430.3
p.G284S
c.850G>A
1 paper
NM_031430.3
p.L287P
c.860T>C
2 papers
NM_031430.3
p.R295Q
c.884G>A
1 paper
NM_031430.3
p.A312E
c.935C>A
1 paper
NM_031430.3
p.R195Q
c.584G>A
1 paper
NM_031430.3
p.E157A
c.470A>C
1 paper
NM_031430.3
p.E157Q
c.469G>C
1 paper
NM_031430.3
p.E157K
c.469G>A
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