Varaico: Literature-Extracted Genetic Variants

Gene:ATF6
Variant:p.T194I

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.T194I
c.581C>T
Surrounding Variants
1 paper
NM_007348.4
p.T194A
c.580A>G
1 paper
NM_007348.4
p.S196P
c.586T>C
1 paper
NM_007348.4
p.P190S
c.568C>T
1 paper
NM_007348.4
p.P190fs
c.568_569fs
1 paper
NM_007348.4
p.A189G
c.566C>G
1 paper
NM_007348.4
p.I204I
c.612T>C
1 paper
NM_007348.4
p.P183H
c.548C>A
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.T210M
c.629C>T
1 paper
NM_007348.4
p.P177T
c.529C>A
1 paper
NM_007348.4
p.P177S
c.529C>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."