Varaico: Literature-Extracted Genetic Variants

Gene:ABRAXAS1
Variant:p.N314S

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
1 paper
NM_139076.3
p.N314S
c.941A>G
Surrounding Variants
1 paper
NM_139076.3
p.D318N
c.952G>A
1 paper
NM_139076.3
p.S307C
c.920C>G
1 paper
NM_139076.3
p.V306A
c.917T>C
1 paper
NM_139076.3
p.N303insFs
c.908dupA
1 paper
NM_139076.3
p.N303fs
c.907_908fs
2 papers
NM_139076.3
p.M326_V327delins
c.978_979delinsTT
1 paper
NM_139076.3
p.L301fs
c.901_902fs
1 paper
NM_139076.3
p.L301delFs
c.902delA
1 paper
NM_139076.3
p.M299I
c.897G>T
1 paper
NM_139076.3
p.M299I
c.897G>C
1 paper
NM_139076.3
p.M299I
c.897G>A
1 paper
NM_139076.3
p.M299delFs
c.895_896delAT
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