Varaico: Literature-Extracted Genetic Variants

Gene:ATF6
Variant:p.E3*

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.E3*
c.7G>T
Surrounding Variants
1 paper
NM_007348.4
p.M1I
c.3G>A
1 paper
NM_007348.4
p.M1I
c.3G>T
1 paper
NM_007348.4
p.M1L
c.1A>C
2 papers
NM_007348.4
p.M1V
c.1A>G
1 paper
NM_007348.4
p.M1L
c.1A>T
1 paper
NM_007348.4
p.A5V
c.14C>T
1 paper
NM_007348.4
p.G9V
c.26G>T
1 paper
NM_007348.4
p.M11I
c.33G>A
1 paper
NM_007348.4
p.M11I
c.33G>C
1 paper
NM_007348.4
p.M11I
c.33G>T
1 paper
NM_007348.4
p.E12K
c.34G>A
2 papers
NM_007348.4
p.S16N
c.47G>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."