Varaico: Literature-Extracted Genetic Variants

Gene:ABRAXAS1
Variant:p.T374A

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.T374A
c.1120A>G
Surrounding Variants
14 papers
NM_139076.3
p.D373N
c.1117G>A
1 paper
NM_139076.3
p.S376G
c.1126A>G
2 papers
NM_139076.3
p.S370fs
c.1108_1109fs
2 papers
NM_139076.3
p.S370T
c.1108T>A
4 papers
NM_139076.3
p.S370fs
c.1108_1109fs
11 papers
NM_139076.3
p.R369insFs
c.1106_1107insG
1 paper
NM_139076.3
p.R369fs
c.1105_1106fs
1 paper
NM_139076.3
p.N378K
c.1134C>G
1 paper
NM_139076.3
p.N378K
c.1134C>A
1 paper
NM_139076.3
p.R369*
c.1105C>T
1 paper
NM_139076.3
p.K368del1
c.1102_1103delTTT
2 papers
NM_139076.3
p.D380G
c.1139A>G
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