Varaico: Literature-Extracted Genetic Variants

Gene:ATF6
Variant:p.N140_S143delFs

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.N140_S143delFs
c.418_427del10
Surrounding Variants
2 papers
NM_007348.4
p.S139insFs
c.417dupT
1 paper
NM_007348.4
p.G136D
c.407G>A
1 paper
NM_007348.4
p.L142F
c.424C>T
1 paper
NM_007348.4
p.L142P
c.425T>C
1 paper
NM_007348.4
p.L134delFs
c.400delT
2 papers
NM_007348.4
p.A145P
c.433G>C
1 paper
NM_007348.4
p.A145V
c.434C>T
1 paper
NM_007348.4
p.Q128E
c.382C>G
1 paper
NM_007348.4
p.S127delFs
c.381delT
2 papers
NM_007348.4
p.E150K
c.448G>A
1 paper
NM_007348.4
p.D151G
c.452A>G
1 paper
NM_007348.4
p.P153T
c.457C>A
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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."