Varaico: Literature-Extracted Genetic Variants

Gene:GOPC
Variant:p.K166R

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.K166R
c.497A>G
Surrounding Variants
1 paper
NM_020399.4
p.E172Q
c.514G>C
1 paper
NM_020399.4
p.E178K
c.532G>A
1 paper
NM_020399.4
p.L181S
c.542T>C
1 paper
NM_020399.4
p.R183I
c.548G>T
1 paper
NM_020399.4
p.E187A
c.560A>C
1 paper
NM_020399.4
p.R190fs
c.568_569fs
1 paper
NM_020399.4
p.R190S
c.568C>A
1 paper
NM_020399.4
p.R190delFs
c.569delC
1 paper
NM_020399.4
p.I193T
c.578T>C
1 paper
NM_020399.4
p.A207A
c.621C>G
1 paper
NM_020399.4
p.E213D
c.639A>T
1 paper
NM_020399.4
p.E213D
c.639A>C
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