Varaico: Literature-Extracted Genetic Variants

Gene:ABRAXAS1
Variant:p.I59V

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.I59V
c.175A>G
Surrounding Variants
1 paper
NM_139076.3
p.I59N
c.176T>A
1 paper
NM_139076.3
p.D52N
c.154G>A
1 paper
NM_139076.3
p.M50I
c.150G>A
1 paper
NM_139076.3
p.Q49L
c.146A>T
1 paper
NM_139076.3
p.N43D
c.127A>G
6 papers
NM_139076.3
p.K42R
c.125A>G
1 paper
NM_139076.3
p.A41V
c.122C>T
1 paper
NM_139076.3
p.G39V
c.116G>T
2 papers
NM_139076.3
p.G35V
c.104G>T
1 paper
NM_139076.3
p.G35R
c.103G>C
1 paper
NM_139076.3
p.G35R
c.103G>A
1 paper
NM_139076.3
p.T29_E30Splc
c.87+849C>A
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