Varaico: Literature-Extracted Genetic Variants

Gene:ABRAXAS1
Variant:p.I254T

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.I254T
c.761T>C
Surrounding Variants
7 papers
NM_139076.3
p.R252Q
c.755G>A
1 paper
NM_139076.3
p.R252*
c.754C>T
2 papers
NM_139076.3
p.R257M
c.770G>T
1 paper
NM_139076.3
p.R257_R258delFs
c.769_772del4
1 paper
NM_139076.3
p.G259A
c.776G>C
1 paper
NM_139076.3
p.D246E
c.738T>G
1 paper
NM_139076.3
p.D246E
c.738T>A
1 paper
NM_139076.3
p.I262S
c.785T>G
1 paper
NM_139076.3
p.K245M
c.734A>T
2 papers
NM_139076.3
p.L243V
c.727C>G
1 paper
NM_139076.3
p.R266Splc
c.796+2T>C
4 papers
NM_139076.3
p.A239T
c.715G>A
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