Varaico: Literature-Extracted Genetic Variants

Gene:ABRAXAS1
Variant:p.V131I

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
Selected Variant
3 papers
NM_139076.3
p.V131I
c.391G>A
Surrounding Variants
2 papers
NM_139076.3
p.L130L
c.390T>G
3 papers
NM_139076.3
p.D129E
c.387C>G
3 papers
NM_139076.3
p.D129E
c.387C>A
1 paper
NM_139076.3
p.N127S
c.380A>G
2 papers
NM_139076.3
p.L135*
c.404T>G
2 papers
NM_139076.3
p.L135*
c.404T>A
1 paper
NM_139076.3
p.S126*
c.377C>G
1 paper
NM_139076.3
p.S126*
c.377C>A
1 paper
NM_139076.3
p.Q122*
c.364C>T
3 papers
NM_139076.3
p.Q122E
c.364C>G
1 paper
NM_139076.3
p.L121F
c.363G>T
1 paper
NM_139076.3
p.L121F
c.363G>C
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