Varaico: Literature-Extracted Genetic Variants

Gene:ATF6B
Variant:p.D19E

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.D19E
c.57C>G
Surrounding Variants
1 paper
NM_004381.5
p.D19E
c.57C>A
1 paper
NM_004381.5
p.N20Y
c.58A>T
1 paper
NM_004381.5
p.D19N
c.55G>A
1 paper
NM_004381.5
p.L6_D19Fs
c.16_55delinsCCCTCCCTFs
3 papers
NM_004381.5
p.N20I
c.59A>T
1 paper
NM_004381.5
p.T18T
c.54C>A
1 paper
NM_004381.5
p.T18S
c.52A>T
1 paper
NM_004381.5
p.L4_F16Fs
c.12_47delinsCCCTCCCTCCTTCCFs
1 paper
NM_004381.5
p.R15C
c.43C>T
1 paper
NM_004381.5
p.E25_D26insFs
c.75_76insA
1 paper
NM_004381.5
p.D26_W27insGGT
c.76_80ins9
1 paper
NM_004381.5
p.D26N
c.76G>A
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