Varaico: Literature-Extracted Genetic Variants

Gene:ABRAXAS1
Variant:p.D26E

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.D26E
c.78C>G
Surrounding Variants
1 paper
NM_139076.3
p.D26E
c.78C>A
1 paper
NM_139076.3
p.L23_N24insFs
c.69_70insC
1 paper
NM_139076.3
p.L23delFs
c.68_69delGA
1 paper
NM_139076.3
p.T29T
c.87G>A
1 paper
NM_139076.3
p.L23F
c.67C>T
1 paper
NM_139076.3
p.H22D
c.64C>G
1 paper
NM_139076.3
p.Q21E
c.61C>G
3 papers
NM_139076.3
p.F20L
c.60C>A
1 paper
NM_139076.3
p.V9_G16delFs
c.26_47del22
2 papers
NM_139076.3
p.G12R
c.34G>C
2 papers
NM_139076.3
p.S11S
c.33G>C
1 paper
NM_139076.3
p.S11*
c.32C>A
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