Varaico: Literature-Extracted Genetic Variants

Gene:ABRAXAS1

ABRAXAS1

191 papers

RefSeq Summary

This gene encodes a protein that binds to the C-terminal repeats of breast cancer 1 (BRCA1) through a phospho-SXXF motif. The encoded protein recruits ubiquitin interaction motif containing 1 protein ...

Pfam Domains

MPN_2A_DUB_likeaa 9–174UCSCBRCA1-A complex subunit Abraxas 1 MPN domain

Gene Aliases

HGNC Name

abraxas 1, BRCA1 A complex subunit

HGNC Previous Symbols

CCDC98; FAM175A

Papers
RefSeq ID
Protein change
DNA change
1–12 of 189 variants
16 papers
NM_139076.3
p.A348T
c.1042G>A
14 papers
NM_139076.3
p.R361Q
c.1082G>A
14 papers
NM_139076.3
p.D373N
c.1117G>A
11 papers
NM_139076.3
p.R369insFs
c.1106_1107insG
9 papers
NM_139076.3
p.T141I
c.422C>T
7 papers
NM_139076.3
p.R252Q
c.755G>A
6 papers
NM_139076.3
p.K42R
c.125A>G
5 papers
NM_139076.3
p.R285W
c.853C>T
5 papers
NM_139076.3
p.S406A
c.1216T>G
4 papers
NM_139076.3
p.A239T
c.715G>A
4 papers
NM_139076.3
p.S370fs
c.1108_1109fs
4 papers
NM_139076.3
p.S404A
c.1210T>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."