Varaico: Literature-Extracted Genetic Variants

Gene:ATF6
Variant:p.L483P

ATF6

368 papers

RefSeq Summary

This gene encodes a transcription factor that activates target genes for the unfolded protein response (UPR) during endoplasmic reticulum (ER) stress. Although it is a transcription factor, this prote...

Pfam Domains

bZIP_1aa 305–367UCSCbZIP transcription factor

Gene Aliases

HGNC Name

activating transcription factor 6

HGNC Alias Symbols

ATF6A; ATP6alpha

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_007348.4
p.L483P
c.1448T>C
Surrounding Variants
2 papers
NM_007348.4
p.W486G
c.1456T>G
1 paper
NM_007348.4
p.V487_V492del0
c.1461_1475del15
3 papers
NM_007348.4
p.L479fs
c.1435_1436fs
2 papers
NM_007348.4
p.R478Splc
c.1434-1G>A
1 paper
NM_007348.4
p.R478Splc
c.1434-3T>A
1 paper
NM_007348.4
p.V492L
c.1474G>T
1 paper
NM_007348.4
p.E493_R494del2
c.1477_1481del6
1 paper
NM_007348.4
p.T495insFs
c.1485dupC
1 paper
NM_007348.4
p.T495I
c.1484C>T
1 paper
NM_007348.4
p.K496fs
c.1486_1487fs
6 papers
NM_007348.4
p.Q511_G512Splc
c.1533+1G>C
1 paper
NM_007348.4
p.T474I
c.1421C>T
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