Varaico: Literature-Extracted Genetic Variants

Gene:ATF6B
Variant:p.S206P

ATF6B

342 papers

RefSeq Summary

The protein encoded by this gene is a transcription factor in the unfolded protein response (UPR) pathway during ER stress. Either as a homodimer or as a heterodimer with ATF6-alpha, the encoded prote...

Pfam Domains

bZIP_1aa 323–389UCSCbZIP transcription factor

Gene Aliases

HGNC Name

activating transcription factor 6 beta

HGNC Previous Symbol

CREBL1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004381.5
p.S206P
c.616T>C
Surrounding Variants
1 paper
NM_004381.5
p.A189V
c.566C>T
1 paper
NM_004381.5
p.P227S
c.679C>T
1 paper
NM_004381.5
p.G234A
c.701G>C
1 paper
NM_004381.5
p.Q188_A189Splc
c.564+5G>A
1 paper
NM_004381.5
p.R240R
c.720G>T
1 paper
NM_004381.5
p.Q188R
c.563A>G
1 paper
NM_004381.5
p.P242S
c.724C>T
1 paper
NM_004381.5
p.P255T
c.763C>A
1 paper
NM_004381.5
p.V161A
c.482T>C
1 paper
NM_004381.5
p.Q270H
c.810G>C
1 paper
NM_004381.5
p.Q270Q
c.810G>A
1 paper
NM_004381.5
p.V273I
c.817G>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."