Varaico: Literature-Extracted Genetic Variants

Gene:ATF6
Variant:p.G393V

ATF6

368 papers

RefSeq Summary

This gene encodes a transcription factor that activates target genes for the unfolded protein response (UPR) during endoplasmic reticulum (ER) stress. Although it is a transcription factor, this prote...

Pfam Domains

bZIP_1aa 305–367UCSCbZIP transcription factor

Gene Aliases

HGNC Name

activating transcription factor 6

HGNC Alias Symbols

ATF6A; ATP6alpha

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_007348.4
p.G393V
c.1178G>T
Surrounding Variants
2 papers
NM_007348.4
p.Y392C
c.1175A>G
1 paper
NM_007348.4
p.P394H
c.1181C>A
1 paper
NM_007348.4
p.L390R
c.1169T>G
6 papers
NM_007348.4
p.S396Splc
c.1187+5G>C
1 paper
NM_007348.4
p.F387fs
c.1159_1160fs
1 paper
NM_007348.4
p.F387delFs
c.1159delT
1 paper
NM_007348.4
p.L385W
c.1154T>G
1 paper
NM_007348.4
p.I383V
c.1147A>G
2 papers
NM_007348.4
p.R376Q
c.1127G>A
5 papers
NM_007348.4
p.R376*
c.1126C>T
1 paper
NM_007348.4
p.S373T
c.1118G>C
4 papers
NM_007348.4
p.V371fs
c.1111_1112fs
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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."