Varaico: Literature-Extracted Genetic Variants

Gene:ABRAXAS1
Variant:p.D391E

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.D391E
c.1173T>A
Surrounding Variants
2 papers
NM_139076.3
p.D391E
c.1173T>G
1 paper
NM_139076.3
p.M385T
c.1154T>C
1 paper
NM_139076.3
p.G399fs
c.1195_1196fs
2 papers
NM_139076.3
p.K381_A382insFs
c.1143_1144insA
1 paper
NM_139076.3
p.A382fs
c.1144_1145fs
1 paper
NM_139076.3
p.D380_K381insFs
c.1140_1141insTA
1 paper
NM_139076.3
p.K381*
c.1141A>T
2 papers
NM_139076.3
p.D380G
c.1139A>G
4 papers
NM_139076.3
p.S404A
c.1210T>G
1 paper
NM_139076.3
p.S404P
c.1210T>C
1 paper
NM_139076.3
p.Y403delFs
c.1209delA
1 paper
NM_139076.3
p.N378K
c.1134C>G
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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."