Varaico: Literature-Extracted Genetic Variants

Gene:GIPC1
Variant:p.F319L

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
2 papers
NM_005716.4
p.F319L
c.957T>A
Surrounding Variants
2 papers
NM_005716.4
p.F319L
c.957T>G
1 paper
NM_005716.4
p.F319S
c.956T>C
2 papers
NM_005716.4
p.F319L
c.955T>C
1 paper
NM_005716.4
p.E316K
c.946G>A
1 paper
NM_005716.4
p.D310Y
c.928G>T
1 paper
NM_005716.4
p.R332C
c.994C>T
1 paper
NM_005716.4
p.A301T
c.901G>A
1 paper
NM_005716.4
p.P297P
c.891G>C
1 paper
NM_005716.4
p.K294Q
c.880A>C
2 papers
NM_005716.4
p.K292fs
c.874_875fs
2 papers
NM_005716.4
p.K292insFs
c.875dupA
2 papers
NM_005716.4
p.A284A
c.852G>A
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