Varaico: Literature-Extracted Genetic Variants

Gene:GIPC1
Variant:p.K216E

GIPC1

56 papers

RefSeq Summary

GIPC1 is a scaffolding protein that regulates cell surface receptor expression and trafficking (Lee et al., 2008 [PubMed 18775991]).[supplied by OMIM, Apr 2009].

Pfam Domains

GIPC1_GH1aa 59–125UCSCGIPC1-3 GH1 domain
PDZaa 133–212UCSCPDZ domain
GIPC1_GH2aa 239–328UCSCGIPC1-3 GH2 domain

Gene Aliases

HGNC Name

GIPC PDZ domain containing family member 1

HGNC Previous Symbol

RGS19IP1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005716.4
p.K216E
c.646A>G
Surrounding Variants
1 paper
NM_005716.4
p.P214S
c.640C>T
1 paper
NM_005716.4
p.T208M
c.623C>T
2 papers
NM_005716.4
p.L187L
c.561G>A
1 paper
NM_005716.4
p.G175A
c.524G>C
1 paper
NM_005716.4
p.H170N
c.508C>A
2 papers
NM_005716.4
p.R159H
c.476G>A
1 paper
NM_005716.4
p.F156V
c.466T>G
1 paper
NM_005716.4
p.A155T
c.463G>A
1 paper
NM_005716.4
p.A152insFs
c.455_456insC
1 paper
NM_005716.4
p.A152S
c.454G>T
1 paper
NM_005716.4
p.T148S
c.442A>T
1 paper
NM_005716.4
p.K138E
c.412A>G
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