Varaico: Literature-Extracted Genetic Variants

Gene:ATF6
Variant:p.R317*

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
6 papers
NM_007348.4
p.R317*
c.949C>T
Surrounding Variants
2 papers
NM_007348.4
p.K315T
c.944A>C
1 paper
NM_007348.4
p.N316delFs
c.947delA
1 paper
NM_007348.4
p.A320T
c.958G>A
1 paper
NM_007348.4
p.M313I
c.939G>A
1 paper
NM_007348.4
p.M313I
c.939G>C
1 paper
NM_007348.4
p.M313I
c.939G>T
1 paper
NM_007348.4
p.R312C
c.934C>T
1 paper
NM_007348.4
p.Q310P
c.929A>C
16 papers
NM_007348.4
p.R324C
c.970C>T
1 paper
NM_007348.4
p.E329A
c.986A>C
1 paper
NM_007348.4
p.A340P
c.1018G>C
2 papers
NM_007348.4
p.E346K
c.1036G>A
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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."