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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:BATF3

Variant:p.R127*

BATF3

18 papers

RefSeq Summary

This gene encodes a member of the basic leucine zipper protein family. The encoded protein functions as a transcriptional repressor when heterodimerizing with JUN. The protein may play a role in repre...

Pfam Domains

bZIP_1aa 33–102UCSCbZIP transcription factor

Gene Aliases

HGNC Name

basic leucine zipper ATF-like transcription factor 3

HGNC Alias Symbols

JUNDM1; SNFT; JDP1

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr1:212686796 G>A

NM_018664.3

p.R127*

c.379C>T

Exome: 0.0% (AC=54, hom=0)Genome: 0.0% (AC=7, hom=0)107 overlapping SVs

Surrounding Variants

1 paper

chr1:212686819 T>C

NM_018664.3

p.D119G

c.356A>G

Exome: 0.0% (AC=6, hom=0)Genome: 0.0% (AC=12, hom=0)107 overlapping SVs

1 paper

chr1:212686826 G>A

NM_018664.3

p.R117W

c.349C>T

Exome: 0.0% (AC=19, hom=0)Genome: 0.0% (AC=2, hom=0)107 overlapping SVs

1 paper

chr1:212686979 C>T

NM_018664.3

p.E66K

c.196G>A

bZIP_1

exact variant not in gnomAD107 overlapping SVs

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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."