Varaico: Literature-Extracted Genetic Variants

Gene:ATF6
Variant:p.G512fs

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
4 papers
NM_007348.4
p.G512fs
c.1534_1535fs
Surrounding Variants
3 papers
NM_007348.4
p.Q511_G512Splc
c.1534-9A>G
1 paper
NM_007348.4
p.V525_Q526del2
c.1573_1577del6
6 papers
NM_007348.4
p.D564G
c.1691A>G
10 papers
NM_007348.4
p.Y567N
c.1699T>A
1 paper
NM_007348.4
p.F571delFs
c.1712delT
2 papers
NM_007348.4
p.R572*
c.1714C>T
1 paper
NM_007348.4
p.R573del1
c.1717_1718delAGG
2 papers
NM_007348.4
p.R573_D574Splc
c.1719+8C>A
6 papers
NM_007348.4
p.Q511_G512Splc
c.1533+1G>C
1 paper
NM_007348.4
p.K496fs
c.1486_1487fs
1 paper
NM_007348.4
p.T495I
c.1484C>T
1 paper
NM_007348.4
p.T495insFs
c.1485dupC
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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."