Varaico: Literature-Extracted Genetic Variants

Gene:ATF6B
Variant:p.R301W

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.R301W
c.901C>T
Surrounding Variants
1 paper
NM_004381.5
p.R301R
c.903G>T
1 paper
NM_004381.5
p.R304S
c.912G>T
1 paper
NM_004381.5
p.R304S
c.912G>C
1 paper
NM_004381.5
p.V308L
c.922G>C
1 paper
NM_004381.5
p.P309S
c.925C>T
1 paper
NM_004381.5
p.P313L
c.938C>T
1 paper
NM_004381.5
p.P318L
c.953C>T
7 papers
NM_004381.5
p.V281L
c.841G>C
1 paper
NM_004381.5
p.R328Q
c.983G>A
1 paper
NM_004381.5
p.E337K
c.1009G>A
1 paper
NM_004381.5
p.I333_K345del13
c.997_1034del39
4 papers
NM_004381.5
p.R356W
c.1066C>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."