Varaico: Literature-Extracted Genetic Variants

Gene:SETX
Variant:p.K2018E

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
7 papers
NM_015046.7
p.K2018E
c.6052A>G
Surrounding Variants
1 paper
NM_015046.7
p.M2017I
c.6051G>T
1 paper
NM_015046.7
p.M2017I
c.6051G>C
1 paper
NM_015046.7
p.M2017I
c.6051G>A
1 paper
NM_015046.7
p.M2017V
c.6049A>G
1 paper
NM_015046.7
p.I2020V
c.6058A>G
2 papers
NM_015046.7
p.E2015_L2016insA
c.6043_6047ins3
1 paper
NM_015046.7
p.N2010I
c.6029A>T
10 papers
NM_015046.7
p.N2010S
c.6029A>G
1 paper
NM_015046.7
p.P2008P
c.6024T>C
14 papers
NM_015046.7
p.K2029E
c.6085A>G
1 paper
NM_015046.7
p.K2029Q
c.6085A>C
7 papers
NM_015046.7
p.C2006Y
c.6017G>A
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