Varaico: Literature-Extracted Genetic Variants

Gene:BABAM2

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
1–12 of 38 variants
2 papers
NM_199191.3
p.P82H
c.245C>A
2 papers
NM_199191.3
p.V250I
c.748G>A
2 papers
NM_199191.3
p.T368A
c.1102A>G
1 paper
NM_199191.3
p.M1L
c.1A>C
1 paper
NM_199191.3
p.M1L
c.1A>T
1 paper
NM_199191.3
p.P16A
c.46C>G
1 paper
NM_199191.3
p.L29L
c.87G>A
1 paper
NM_199191.3
p.T38I
c.113C>T
1 paper
NM_199191.3
p.Y62D
c.184T>G
1 paper
NM_199191.3
p.W69Splc
c.206-3616T>G
1 paper
NM_199191.3
p.P78L
c.233C>T
1 paper
NM_199191.3
p.L80P
c.239T>C
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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."