Varaico: Literature-Extracted Genetic Variants

Gene:ATF6B
Variant:p.E9ins1

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.E9ins1
c.26_27insGGT
Surrounding Variants
1 paper
NM_004381.5
p.S8T
c.23G>C
3 papers
NM_004381.5
p.D12Y
c.34G>T
3 papers
NM_004381.5
p.D12N
c.34G>A
1 paper
NM_004381.5
p.L6L
c.18G>A
1 paper
NM_004381.5
p.M5I
c.15G>A
25 papers
NM_004381.5
p.L4L
c.12G>C
18 papers
NM_004381.5
p.L4L
c.12G>A
1 paper
NM_004381.5
p.R15C
c.43C>T
1 paper
NM_004381.5
p.E3K
c.7G>A
1 paper
NM_004381.5
p.L4_F16Fs
c.12_47delinsCCCTCCCTCCTTCCFs
1 paper
NM_004381.5
p.A2P
c.4G>C
1 paper
NM_004381.5
p.M1I
c.3G>A
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