Varaico: Literature-Extracted Genetic Variants

Gene:ATF6
Variant:p.P118delFs

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
5 papers
NM_007348.4
p.P118delFs
c.353delC
Surrounding Variants
1 paper
NM_007348.4
p.P118fs
c.352_353fs
4 papers
NM_007348.4
p.P118fs
c.352_353fs
1 paper
NM_007348.4
p.P118_E119Splc
c.354+6T>C
1 paper
NM_007348.4
p.S113*
c.338C>A
2 papers
NM_007348.4
p.D109G
c.326A>G
1 paper
NM_007348.4
p.S107L
c.320C>T
1 paper
NM_007348.4
p.S103S
c.309G>C
1 paper
NM_007348.4
p.S103P
c.307T>C
1 paper
NM_007348.4
p.V102L
c.304G>C
1 paper
NM_007348.4
p.S101*
c.302C>A
1 paper
NM_007348.4
p.S101*
c.302C>G
1 paper
NM_007348.4
p.P95insFs
c.283dupC
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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."