Varaico: Literature-Extracted Genetic Variants

Gene:GOPC
Variant:p.I129V

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.I129V
c.385A>G
Surrounding Variants
1 paper
NM_020399.4
p.L126M
c.376C>A
3 papers
NM_020399.4
p.Q125*
c.373C>T
1 paper
NM_020399.4
p.H134R
c.401A>G
1 paper
NM_020399.4
p.H134Q
c.402T>G
1 paper
NM_020399.4
p.H134Q
c.402T>A
1 paper
NM_020399.4
p.L123V
c.367C>G
1 paper
NM_020399.4
p.D121A
c.362A>C
1 paper
NM_020399.4
p.K117Q
c.349A>C
1 paper
NM_020399.4
p.V113D
c.338T>A
1 paper
NM_020399.4
p.A110V
c.329C>T
1 paper
NM_020399.4
p.T108S
c.323C>G
1 paper
NM_020399.4
p.E95_A96Splc
c.286-1G>A
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