Varaico: Literature-Extracted Genetic Variants

Gene:ABRAXAS1
Variant:p.S11*

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.S11*
c.32C>A
Surrounding Variants
2 papers
NM_139076.3
p.S11S
c.33G>C
2 papers
NM_139076.3
p.G12R
c.34G>C
1 paper
NM_139076.3
p.L10V
c.28C>G
1 paper
NM_139076.3
p.V9fs
c.25_26fs
2 papers
NM_139076.3
p.S7S
c.21G>A
1 paper
NM_139076.3
p.V9_G16delFs
c.26_47del22
1 paper
NM_139076.3
p.E4_S5delins
c.12_14delinsTAT
1 paper
NM_139076.3
p.E4*
c.10G>T
1 paper
NM_139076.3
p.G3R
c.7G>C
1 paper
NM_139076.3
p.G3R
c.7G>A
1 paper
NM_139076.3
p.E2D
c.6G>T
1 paper
NM_139076.3
p.E2D
c.6G>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."