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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:BAD

BAD

84 papers

RefSeq Summary

The protein encoded by this gene is a member of the BCL-2 family. BCL-2 family members are known to be regulators of programmed cell death. This protein positively regulates cell apoptosis by forming ...

Pfam Domains

Bcl-2_BADaa 1–168UCSCPro-apoptotic Bcl-2 protein, BAD

Gene Aliases

HGNC Name

BCL2 associated agonist of cell death

HGNC Alias Symbols

BCL2L8; BBC2

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 68 variants

3 papers

chr11:64271768 A>C

NM_032989.3

p.S75A

c.223T>G

Bcl-2_BAD

exact variant not in gnomAD33 overlapping SVs

2 papers

chr11:64271782 C>G

NM_032989.3

p.R70P

c.209G>C

Bcl-2_BAD

Exome: 0.0% (AC=1, hom=0)Genome: n/a33 overlapping SVs

2 papers

chr11:64271703 G>A

NM_032989.3

p.R96R

c.288C>T

Bcl-2_BAD

Exome: 15.9% (AC=209570, hom=17628)Genome: 11.4% (AC=17309, hom=1227)33 overlapping SVs

2 papers

chr11:64271696 A>C

NM_032989.3

p.S99A

c.295T>G

Bcl-2_BAD

exact variant not in gnomAD33 overlapping SVs

2 papers

chr11:64271635 T>C

NM_032989.3

p.D119G

c.356A>G

Bcl-2_BAD

Exome: 0.0% (AC=0, hom=0)Genome: n/a33 overlapping SVs

2 papers

chr11:64270254 C>A

NM_032989.3

p.W154C

c.462G>T

Bcl-2_BAD

exact variant not in gnomAD33 overlapping SVs

2 papers

chr11:64270254 C>G

NM_032989.3

p.W154C

c.462G>C

Bcl-2_BAD

Exome: 0.0% (AC=615, hom=0)Genome: 0.0% (AC=60, hom=0)33 overlapping SVs

1 paper

chr11:64284368 T>A

NM_032989.3

p.M1L

c.1A>T

Bcl-2_BAD

exact variant not in gnomAD34 overlapping SVs

1 paper

chr11:64284368 T>C

NM_032989.3

p.M1V

c.1A>G

Bcl-2_BAD

Exome: 0.0% (AC=2, hom=0)Genome: n/a34 overlapping SVs

1 paper

chr11:64284368 T>G

NM_032989.3

p.M1L

c.1A>C

Bcl-2_BAD

exact variant not in gnomAD34 overlapping SVs

1 paper

chr11:64284356 G>T

NM_032989.3

p.P5T

c.13C>A

Bcl-2_BAD

exact variant not in gnomAD34 overlapping SVs

1 paper

chr11:64284351 C>T

NM_032989.3

p.E6E

c.18G>A

Bcl-2_BAD

Exome: 3.7% (AC=54075, hom=1144)Genome: 3.0% (AC=4580, hom=109)34 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."