Varaico: Literature-Extracted Genetic Variants

Gene:ATF6B
Variant:p.D12N

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
3 papers
NM_004381.5
p.D12N
c.34G>A
Surrounding Variants
3 papers
NM_004381.5
p.D12Y
c.34G>T
1 paper
NM_004381.5
p.E9ins1
c.26_27insGGT
1 paper
NM_004381.5
p.R15C
c.43C>T
1 paper
NM_004381.5
p.S8T
c.23G>C
1 paper
NM_004381.5
p.L4_F16Fs
c.12_47delinsCCCTCCCTCCTTCCFs
1 paper
NM_004381.5
p.L6L
c.18G>A
1 paper
NM_004381.5
p.T18S
c.52A>T
1 paper
NM_004381.5
p.M5I
c.15G>A
1 paper
NM_004381.5
p.T18T
c.54C>A
1 paper
NM_004381.5
p.D19N
c.55G>A
1 paper
NM_004381.5
p.L6_D19Fs
c.16_55delinsCCCTCCCTFs
25 papers
NM_004381.5
p.L4L
c.12G>C
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