Varaico: Literature-Extracted Genetic Variants

Gene:ATF6
Variant:p.V173G

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.V173G
c.518T>G
Surrounding Variants
1 paper
NM_007348.4
p.S175_K176delFs
c.525_526delAA
1 paper
NM_007348.4
p.I171V
c.511A>G
4 papers
NM_007348.4
p.I171fs
c.511_512fs
1 paper
NM_007348.4
p.P177T
c.529C>A
1 paper
NM_007348.4
p.P177S
c.529C>T
5 papers
NM_007348.4
p.I171delFs
c.511delA
2 papers
NM_007348.4
p.S178*
c.533C>A
1 paper
NM_007348.4
p.S178*
c.533C>G
1 paper
NM_007348.4
p.L165fs
c.493_494fs
1 paper
NM_007348.4
p.L165delFs
c.493_494delCT
1 paper
NM_007348.4
p.P183H
c.548C>A
1 paper
NM_007348.4
p.A189G
c.566C>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."