Varaico: Literature-Extracted Genetic Variants

Gene:ATF6
Variant:p.C467S

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.C467S
c.1400G>C
Surrounding Variants
1 paper
NM_007348.4
p.C467S
c.1399T>A
1 paper
NM_007348.4
p.N472I
c.1415A>T
1 paper
NM_007348.4
p.T474I
c.1421C>T
1 paper
NM_007348.4
p.L451L
c.1351C>T
1 paper
NM_007348.4
p.K449R
c.1346A>G
1 paper
NM_007348.4
p.H443N
c.1327C>A
1 paper
NM_007348.4
p.Y441C
c.1322A>G
1 paper
NM_007348.4
p.R440Splc
c.1320-1G>A
1 paper
NM_007348.4
p.R478Splc
c.1434-3T>A
2 papers
NM_007348.4
p.R478Splc
c.1434-1G>A
3 papers
NM_007348.4
p.L479fs
c.1435_1436fs
1 paper
NM_007348.4
p.L483P
c.1448T>C
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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."