Varaico: Literature-Extracted Genetic Variants

Gene:ATF6
Variant:p.W74R

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.W74R
c.220T>A
Surrounding Variants
1 paper
NM_007348.4
p.W74R
c.220T>C
1 paper
NM_007348.4
p.I76V
c.226A>G
1 paper
NM_007348.4
p.S71L
c.212C>T
1 paper
NM_007348.4
p.P68S
c.202C>T
1 paper
NM_007348.4
p.I80N
c.239T>A
1 paper
NM_007348.4
p.I80I
c.240C>A
1 paper
NM_007348.4
p.M67L
c.199A>C
9 papers
NM_007348.4
p.M67V
c.199A>G
1 paper
NM_007348.4
p.M67L
c.199A>T
1 paper
NM_007348.4
p.C81S
c.241T>A
1 paper
NM_007348.4
p.C81_T82insA
c.241_245ins3
1 paper
NM_007348.4
p.T82del1
c.244_245delACA
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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."