Varaico: Literature-Extracted Genetic Variants

Gene:ATF6B
Variant:p.S596Y

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.S596Y
c.1787C>A
Surrounding Variants
1 paper
NM_004381.5
p.D583_A584insCGT
c.1747_1751ins9
1 paper
NM_004381.5
p.S577L
c.1730C>T
1 paper
NM_004381.5
p.R576H
c.1727G>A
1 paper
NM_004381.5
p.D600insFs
c.1798dupG
1 paper
NM_004381.5
p.H601L
c.1802A>T
1 paper
NM_004381.5
p.P622S
c.1864C>T
2 papers
NM_004381.5
p.N627S
c.1880A>G
1 paper
NM_004381.5
p.R562M
c.1685G>T
1 paper
NM_004381.5
p.R562G
c.1684A>G
1 paper
NM_004381.5
p.R543Q
c.1628G>A
1 paper
NM_004381.5
p.W519S
c.1556G>C
1 paper
NM_004381.5
p.G632R
c.1894G>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."