Varaico: Literature-Extracted Genetic Variants

Gene:RILP
Variant:p.P336L

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.P336L
c.1007C>T
Surrounding Variants
1 paper
NM_031430.3
p.P334L
c.1001C>T
1 paper
NM_031430.3
p.I340M
c.1020A>G
1 paper
NM_031430.3
p.R349W
c.1045C>T
1 paper
NM_031430.3
p.R349P
c.1046G>C
1 paper
NM_031430.3
p.E358D
c.1074G>T
1 paper
NM_031430.3
p.E358D
c.1074G>C
1 paper
NM_031430.3
p.H388H
c.1164C>T
1 paper
NM_031430.3
p.E389K
c.1165G>A
1 paper
NM_031430.3
p.C392F
c.1175G>T
1 paper
NM_031430.3
p.A312E
c.935C>A
2 papers
NM_031430.3
p.R295Q
c.884G>A
1 paper
NM_031430.3
p.L287P
c.860T>C
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