Varaico: Literature-Extracted Genetic Variants

Gene:RILPL2
Variant:p.A54V

RILPL2

21 papers

RefSeq Summary

This gene encodes a protein that contains a rab-interacting lysosomal protein-like domain. This protein may be involved in regulating lysosome morphology. This protein may also be a target for the Hep...

Pfam Domains

RH1aa 40–105UCSCRILP homology 1 domain
RILPaa 134–203UCSCRab interacting lysosomal protein

Gene Aliases

HGNC Name

Rab interacting lysosomal protein like 2

HGNC Alias Symbols

MGC7036; FLJ30380; FLJ32372

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_145058.3
p.A54V
c.161C>T
Surrounding Variants
1 paper
NM_145058.3
p.A54T
c.160G>A
1 paper
NM_145058.3
p.G49V
c.146G>T
1 paper
NM_145058.3
p.L47L
c.139C>T
1 paper
NM_145058.3
p.Y42*
c.126T>A
2 papers
NM_145058.3
p.L86P
c.257T>C
1 paper
NM_145058.3
p.E92delFs
c.276delC
1 paper
NM_145058.3
p.D124N
c.370G>A
1 paper
NM_145058.3
p.D124A
c.371A>C
1 paper
NM_145058.3
p.T126A
c.376A>G
1 paper
NM_145058.3
p.D127N
c.379G>A
1 paper
NM_145058.3
p.D127A
c.380A>C
1 paper
NM_145058.3
p.P128A
c.382C>G
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