Varaico: Literature-Extracted Genetic Variants

Gene:ATF6B
Variant:p.S98C

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.S98C
c.293C>G
Surrounding Variants
1 paper
NM_004381.5
p.S99P
c.295T>C
1 paper
NM_004381.5
p.C95*
c.285C>A
1 paper
NM_004381.5
p.E103Q
c.307G>C
1 paper
NM_004381.5
p.S105A
c.313T>G
1 paper
NM_004381.5
p.S89P
c.265T>C
1 paper
NM_004381.5
p.S112_E114del3
c.334_341del9
1 paper
NM_004381.5
p.F82S
c.245T>C
1 paper
NM_004381.5
p.P80fs
c.238_239fs
1 paper
NM_004381.5
p.L79L
c.237G>A
1 paper
NM_004381.5
p.D68N
c.202G>A
1 paper
NM_004381.5
p.L63Q
c.188T>A
2 papers
NM_004381.5
p.G60V
c.179G>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."