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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:BABAM2

Variant:p.M1L

BABAM2

59 papers

RefSeq Summary

This gene encodes an anti-apoptotic, death receptor-associated protein that interacts with tumor necrosis factor-receptor-1. The encoded protein acts as an adapter in several protein complexes, includ...

Pfam Domains

BREaa 8–333UCSCBrain and reproductive organ-expressed protein (BRE)

Gene Aliases

HGNC Name

BRISC and BRCA1 A complex member 2

HGNC Previous Symbol

BRE

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr2:27894557 A>T

NM_199191.3

p.M1L

c.1A>T

exact variant not in gnomAD77 overlapping SVs

Surrounding Variants

1 paper

chr2:27894557 A>C

NM_199191.3

p.M1L

c.1A>C

exact variant not in gnomAD77 overlapping SVs

1 paper

chr2:27894602 C>G

NM_199191.3

p.P16A

c.46C>G

BRE

Exome: 0.0% (AC=1, hom=0)Genome: n/a77 overlapping SVs

1 paper

chr2:27894643 G>A

NM_199191.3

p.L29L

c.87G>A

BRE

Exome: 0.0% (AC=5, hom=0)Genome: n/a77 overlapping SVs

1 paper

chr2:27894669 C>T

NM_199191.3

p.T38I

c.113C>T

BRE

Exome: 0.0% (AC=24, hom=0)Genome: 0.0% (AC=7, hom=0)77 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."