Varaico: Literature-Extracted Genetic Variants

Gene:GOPC
Variant:p.Q59fs

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
2 papers
NM_020399.4
p.Q59fs
c.175_176fs
Surrounding Variants
1 paper
NM_020399.4
p.I55V
c.163A>G
1 paper
NM_020399.4
p.Y64fs
c.190_191fs
1 paper
NM_020399.4
p.Y64insFs
c.191dupA
1 paper
NM_020399.4
p.G53E
c.158G>A
1 paper
NM_020399.4
p.Q68*
c.202C>T
1 paper
NM_020399.4
p.A24V
c.71C>T
2 papers
NM_020399.4
p.G14S
c.40G>A
1 paper
NM_020399.4
p.G13V
c.38G>T
1 paper
NM_020399.4
p.G13E
c.38G>A
1 paper
NM_020399.4
p.G12delFs
c.35delC
2 papers
NM_020399.4
p.G12V
c.35G>T
2 papers
NM_020399.4
p.G12A
c.35G>C
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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."