Varaico: Literature-Extracted Genetic Variants

Gene:GOPC
Variant:p.I244R

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.I244R
c.731T>G
Surrounding Variants
1 paper
NM_020399.4
p.R248L
c.743G>T
1 paper
NM_020399.4
p.N238Y
c.712A>T
1 paper
NM_020399.4
p.L236P
c.707T>C
1 paper
NM_020399.4
p.V252delFs
c.755_756delCA
2 papers
NM_020399.4
p.C256F
c.767G>T
1 paper
NM_020399.4
p.R259C
c.775C>T
1 paper
NM_020399.4
p.P269T
c.805C>A
1 paper
NM_020399.4
p.G271fs
c.811_812fs
1 paper
NM_020399.4
p.E213D
c.639A>T
1 paper
NM_020399.4
p.E213D
c.639A>C
1 paper
NM_020399.4
p.A207A
c.621C>G
1 paper
NM_020399.4
p.I193T
c.578T>C
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."