Varaico: Literature-Extracted Genetic Variants

Gene:GOPC
Variant:p.G12delFs

GOPC

134 papers

RefSeq Summary

This gene encodes a Golgi protein with a PDZ domain. The PDZ domain is globular and proteins which contain them bind other proteins through short motifs near the C-termini. Mice which are deficient in...

Pfam Domains

PDZaa 288–368UCSCPDZ domain

Gene Aliases

HGNC Name

golgi associated PDZ and coiled-coil motif containing

HGNC Alias Symbols

dJ94G16.2; PIST; GOPC1; CAL

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_020399.4
p.G12delFs
c.35delC
Surrounding Variants
2 papers
NM_020399.4
p.G12V
c.35G>T
2 papers
NM_020399.4
p.G12A
c.35G>C
1 paper
NM_020399.4
p.G12E
c.35G>A
1 paper
NM_020399.4
p.G13V
c.38G>T
1 paper
NM_020399.4
p.G12*
c.34G>T
1 paper
NM_020399.4
p.G12R
c.34G>C
2 papers
NM_020399.4
p.G12R
c.34G>A
1 paper
NM_020399.4
p.G13E
c.38G>A
2 papers
NM_020399.4
p.G14S
c.40G>A
1 paper
NM_020399.4
p.A9T
c.25G>A
1 paper
NM_020399.4
p.C7W
c.21C>G
1 paper
NM_020399.4
p.M1_S2insFs
c.3_4insA
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