Varaico: Literature-Extracted Genetic Variants

Gene:RILPL2
Variant:p.K149Q

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.K149Q
c.445A>C
Surrounding Variants
2 papers
NM_145058.3
p.K149E
c.445A>G
1 paper
NM_145058.3
p.E157Q
c.469G>C
1 paper
NM_145058.3
p.E157K
c.469G>A
1 paper
NM_145058.3
p.E157A
c.470A>C
1 paper
NM_145058.3
p.P131R
c.392C>G
1 paper
NM_145058.3
p.P131A
c.391C>G
1 paper
NM_145058.3
p.R130Q
c.389G>A
1 paper
NM_145058.3
p.P128A
c.382C>G
1 paper
NM_145058.3
p.D127A
c.380A>C
1 paper
NM_145058.3
p.D127N
c.379G>A
1 paper
NM_145058.3
p.T126A
c.376A>G
1 paper
NM_145058.3
p.D124A
c.371A>C
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