Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ATF1

Variant:p.S63A

ATF1

116 papers

RefSeq Summary

This gene encodes an activating transcription factor, which belongs to the ATF subfamily and bZIP (basic-region leucine zipper) family. It influences cellular physiologic processes by regulating the e...

Pfam Domains

pKIDaa 43–83UCSCpKID domain

bZIP_1aa 211–270UCSCbZIP transcription factor

Gene Aliases

HGNC Name

activating transcription factor 1

HGNC Alias Symbol

TREB36

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

2 papers

chr12:50796002 T>G

NM_005171.5

p.S63A

c.187T>G

pKID

exact variant not in gnomAD27 overlapping SVs

Surrounding Variants

2 papers

chr12:50795997 G>A

NM_005171.5

p.R61H

c.182G>A

pKID

Exome: 0.0% (AC=17, hom=0)Genome: 0.0% (AC=3, hom=0)27 overlapping SVs

1 paper

chr12:50796009 G>C

NM_005171.5

p.R65T

c.194G>C

pKID

exact variant not in gnomAD27 overlapping SVs

1 paper

chr12:50795963 T>G

NM_005171.5

p.S50A

c.148T>G

pKID

Exome: 0.0% (AC=2, hom=0)Genome: n/a27 overlapping SVs

1 paper

chr12:50795951 G>A

NM_005171.5

p.D46N

c.136G>A

pKID

Exome: 0.0% (AC=6, hom=1)Genome: 0.0% (AC=2, hom=0)27 overlapping SVs

1 paper

chr12:50795944 C>A

NM_005171.5

p.D43E

c.129C>A

pKID

exact variant not in gnomAD27 overlapping SVs

1 paper

chr12:50795944 C>G

NM_005171.5

p.D43E

c.129C>G

pKID

exact variant not in gnomAD27 overlapping SVs

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."