Varaico: Literature-Extracted Genetic Variants

Gene:GIPC2
Variant:p.L66F

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
2 papers
NM_017655.6
p.L66F
c.196C>T
Surrounding Variants
1 paper
NM_017655.6
p.A68S
c.202G>T
2 papers
NM_017655.6
p.S61F
c.182C>T
1 paper
NM_017655.6
p.G72V
c.215G>T
2 papers
NM_017655.6
p.F74Y
c.221T>A
1 paper
NM_017655.6
p.A34V
c.101C>T
1 paper
NM_017655.6
p.S33*
c.98C>A
1 paper
NM_017655.6
p.S33*
c.98C>G
1 paper
NM_017655.6
p.L32fs
c.94_95fs
1 paper
NM_017655.6
p.A27A
c.81G>A
1 paper
NM_017655.6
p.G22_E23insFs
c.66_67ins23
1 paper
NM_017655.6
p.T16delFs
c.47delC
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."