Varaico: Literature-Extracted Genetic Variants

Gene:SETX
Variant:p.Q2000E

SETX

708 papers

RefSeq Summary

This gene encodes a protein named for its homology to the Sen1p protein of fungi which has RNA helicase activity encoded by a domain at the C-terminal end of the protein. The protein encoded by this g...

Pfam Domains

AAA_11aa 1933–2218UCSCAAA domain
AAA_12aa 2225–2426UCSCAAA domain

Gene Aliases

HGNC Name

senataxin

HGNC Previous Symbols

ALS4; SCAR1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_015046.7
p.Q2000E
c.5998C>G
Surrounding Variants
1 paper
NM_015046.7
p.R2002H
c.6005G>A
1 paper
NM_015046.7
p.N1995S
c.5984A>G
1 paper
NM_015046.7
p.V2005M
c.6013G>A
1 paper
NM_015046.7
p.H1989_S1994del6
c.5965_5981del18
7 papers
NM_015046.7
p.C2006Y
c.6017G>A
1 paper
NM_015046.7
p.E1992K
c.5974G>A
1 paper
NM_015046.7
p.P2008P
c.6024T>C
1 paper
NM_015046.7
p.N2010I
c.6029A>T
10 papers
NM_015046.7
p.N2010S
c.6029A>G
2 papers
NM_015046.7
p.R1986W
c.5956A>T
2 papers
NM_015046.7
p.E2015_L2016insA
c.6043_6047ins3
1 paper
NM_015046.7
p.N1984fs
c.5950_5951fs
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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."