Varaico: Literature-Extracted Genetic Variants

Gene:GIPC2
Variant:p.D125E

GIPC2

42 papers

Pfam Domains

GIPC1_GH1aa 43–109UCSCGIPC1-3 GH1 domain
GIPC1_GH1aa 43–109UCSCGIPC1-3 GH1 domain
PDZaa 117–195UCSCPDZ domain
PDZaa 117–195UCSCPDZ domain
GIPC1_GH2aa 221–310UCSCGIPC1-3 GH2 domain

Gene Aliases

HGNC Name

GIPC PDZ domain containing family member 2

HGNC Alias Symbols

FLJ20075; SEMCAP-2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_017655.6
p.D125E
c.375T>G
Surrounding Variants
1 paper
NM_017655.6
p.D125E
c.375T>A
1 paper
NM_017655.6
p.D125N
c.373G>A
1 paper
NM_017655.6
p.E115K
c.343G>A
1 paper
NM_017655.6
p.K112T
c.335A>C
1 paper
NM_017655.6
p.H110N
c.328C>A
2 papers
NM_017655.6
p.G102E
c.305G>A
1 paper
NM_017655.6
p.I91T
c.272T>C
1 paper
NM_017655.6
p.T85fs
c.253_254fs
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