Varaico: Literature-Extracted Genetic Variants

Gene:ABRAXAS1
Variant:p.R104H

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.R104H
c.311G>A
Surrounding Variants
1 paper
NM_139076.3
p.R103L
c.308G>T
1 paper
NM_139076.3
p.R103C
c.307C>T
1 paper
NM_139076.3
p.Q108E
c.322C>G
1 paper
NM_139076.3
p.Q108H
c.324G>T
1 paper
NM_139076.3
p.Q108H
c.324G>C
1 paper
NM_139076.3
p.G98D
c.293G>A
1 paper
NM_139076.3
p.T111M
c.332C>T
1 paper
NM_139076.3
p.K94_N95Splc
c.283-1G>C
1 paper
NM_139076.3
p.L117I
c.349C>A
1 paper
NM_139076.3
p.L121F
c.363G>T
1 paper
NM_139076.3
p.L121F
c.363G>C
1 paper
NM_139076.3
p.Q122*
c.364C>T
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