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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:BATF3

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

1–12 of 14 variants

2 papers

chr1:212699732 C>T

NM_018664.3

p.V11I

c.31G>A

Exome: 14.2% (AC=165885, hom=12360)Genome: 15.1% (AC=22728, hom=1848)107 overlapping SVs

1 paper

chr1:212699761 A>G

NM_018664.3

p.M1T

c.2T>C

Exome: 0.0% (AC=0, hom=0)Genome: n/a107 overlapping SVs

1 paper

chr1:212699754 T>C

NM_018664.3

p.Q3Q

c.9A>G

Exome: 14.2% (AC=160121, hom=11918)Genome: 15.1% (AC=22574, hom=1838)107 overlapping SVs

1 paper

chr1:212699728 A>T

NM_018664.3

p.L12Q

c.35T>A

Exome: 0.0% (AC=0, hom=0)Genome: n/a107 overlapping SVs

1 paper

chr1:212699708 G>T

NM_018664.3

p.P19T

c.55C>A

Exome: 0.0% (AC=0, hom=0)Genome: n/a107 overlapping SVs

1 paper

chr1:212697051 A>C

NM_018664.3

p.D35E

c.105T>G

bZIP_1

exact variant not in gnomAD109 overlapping SVs

1 paper

chr1:212697051 A>T

NM_018664.3

p.D35E

c.105T>A

bZIP_1

Exome: n/aGenome: 0.0% (AC=1, hom=0)109 overlapping SVs

1 paper

chr1:212696998 C>T

NM_018664.3

p.R53Q

c.158G>A

bZIP_1

Exome: 0.0% (AC=3, hom=0)Genome: 0.0% (AC=0, hom=0)109 overlapping SVs

1 paper

chr1:212696993 T>C

NM_018664.3

p.K55E

c.163A>G

bZIP_1

Exome: 0.0% (AC=1, hom=0)Genome: n/a109 overlapping SVs

1 paper

chr1:212696975 C>T

NM_018664.3

p.D61N

c.181G>A

bZIP_1

exact variant not in gnomAD109 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

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

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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."