Varaico: Literature-Extracted Genetic Variants

Gene:BABAM2
Variant:p.E273fs

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.E273fs
c.817_818fs
Surrounding Variants
1 paper
NM_199191.3
p.E273K
c.817G>A
1 paper
NM_199191.3
p.Q266H
c.798A>C
1 paper
NM_199191.3
p.Q266H
c.798A>T
1 paper
NM_199191.3
p.V264M
c.790G>A
1 paper
NM_199191.3
p.D305A
c.914A>C
1 paper
NM_199191.3
p.C254Y
c.761G>A
2 papers
NM_199191.3
p.V250I
c.748G>A
1 paper
NM_199191.3
p.G242*
c.724G>T
1 paper
NM_199191.3
p.A239D
c.716C>A
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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."