Varaico: Literature-Extracted Genetic Variants

Gene:ABRAXAS1
Variant:p.P337delFs

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
2 papers
NM_139076.3
p.P337delFs
c.1011delT
Surrounding Variants
1 paper
NM_139076.3
p.A338T
c.1012G>A
1 paper
NM_139076.3
p.A338fs
c.1012_1013fs
1 paper
NM_139076.3
p.A335Fs
c.1003delinsGAFs
2 papers
NM_139076.3
p.E334_A335delins
c.1002_1003delinsTT
1 paper
NM_139076.3
p.I343delFs
c.1027delT
1 paper
NM_139076.3
p.I344T
c.1031T>C
1 paper
NM_139076.3
p.D331H
c.991G>C
2 papers
NM_139076.3
p.H346Y
c.1036C>T
1 paper
NM_139076.3
p.K347E
c.1039A>G
16 papers
NM_139076.3
p.A348T
c.1042G>A
1 paper
NM_139076.3
p.L349V
c.1045T>G
2 papers
NM_139076.3
p.M326_V327delins
c.978_979delinsTT
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