Varaico: Literature-Extracted Genetic Variants

Gene:ABRAXAS1
Variant:p.I278T

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.I278T
c.833T>C
Surrounding Variants
1 paper
NM_139076.3
p.F279I
c.835T>A
3 papers
NM_139076.3
p.E276del1
c.826_827delCTC
2 papers
NM_139076.3
p.E276D
c.828G>T
2 papers
NM_139076.3
p.E276D
c.828G>C
1 paper
NM_139076.3
p.L280_C281ins4
c.838_842ins12
1 paper
NM_139076.3
p.C281C
c.843T>C
5 papers
NM_139076.3
p.R285W
c.853C>T
1 paper
NM_139076.3
p.I270insFs
c.810dupC
1 paper
NM_139076.3
p.R266Splc
c.797-1G>A
1 paper
NM_139076.3
p.V298insFs
c.892_893ins5
3 papers
NM_139076.3
p.V298L
c.892G>C
1 paper
NM_139076.3
p.M299I
c.897G>T
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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."