Varaico: Literature-Extracted Genetic Variants

Gene:BABAM2
Variant:p.L80P

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
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_199191.3
p.L80P
c.239T>C
Surrounding Variants
2 papers
NM_199191.3
p.P82H
c.245C>A
1 paper
NM_199191.3
p.P78L
c.233C>T
1 paper
NM_199191.3
p.F84C
c.251T>G
1 paper
NM_199191.3
p.E88G
c.263A>G
1 paper
NM_199191.3
p.S97A
c.289T>G
1 paper
NM_199191.3
p.W69Splc
c.206-3616T>G
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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."