Varaico: Literature-Extracted Genetic Variants

Gene:ABRAXAS1
Variant:p.R361W

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.R361W
c.1081C>T
Surrounding Variants
1 paper
NM_139076.3
p.R361L
c.1082G>T
14 papers
NM_139076.3
p.R361Q
c.1082G>A
1 paper
NM_139076.3
p.F357Y
c.1070T>A
1 paper
NM_139076.3
p.Q366*
c.1096C>T
1 paper
NM_139076.3
p.Q356*
c.1066C>T
1 paper
NM_139076.3
p.W355R
c.1063T>C
1 paper
NM_139076.3
p.W355R
c.1063T>A
1 paper
NM_139076.3
p.D367N
c.1099G>A
1 paper
NM_139076.3
p.R369*
c.1105C>T
1 paper
NM_139076.3
p.K368del1
c.1102_1103delTTT
11 papers
NM_139076.3
p.R369insFs
c.1106_1107insG
1 paper
NM_139076.3
p.R369fs
c.1105_1106fs
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