Varaico: Literature-Extracted Genetic Variants

Gene:ATF6
Variant:p.T296fs

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.T296fs
c.886_887fs
Surrounding Variants
1 paper
NM_007348.4
p.N299insFs
c.896_897insT
1 paper
NM_007348.4
p.G301D
c.902G>A
1 paper
NM_007348.4
p.D303N
c.907G>A
2 papers
NM_007348.4
p.V288M
c.862G>A
2 papers
NM_007348.4
p.D303_I304Splc
c.909+2T>G
1 paper
NM_007348.4
p.N279Y
c.835A>T
1 paper
NM_007348.4
p.V269_S277del9
c.805_830del27
5 papers
NM_007348.4
p.P266insFs
c.797dupC
1 paper
NM_007348.4
p.G260R
c.778G>A
1 paper
NM_007348.4
p.G260R
c.778G>C
1 paper
NM_007348.4
p.P254insFs
c.760_761insA
1 paper
NM_007348.4
p.A245V
c.734C>T
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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."