Varaico: Literature-Extracted Genetic Variants

Gene:SETX
Variant:p.Q653K

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
12 papers
NM_015046.7
p.Q653K
c.1957C>A
Surrounding Variants
1 paper
NM_015046.7
p.S655G
c.1963A>G
1 paper
NM_015046.7
p.V656L
c.1966G>T
1 paper
NM_015046.7
p.V656L
c.1966G>C
1 paper
NM_015046.7
p.E648del1
c.1942_1943delTTC
1 paper
NM_015046.7
p.K647E
c.1939A>G
1 paper
NM_015046.7
p.S646F
c.1937C>T
8 papers
NM_015046.7
p.A660G
c.1979C>G
1 paper
NM_015046.7
p.F645Y
c.1934T>A
1 paper
NM_015046.7
p.T663I
c.1988C>T
1 paper
NM_015046.7
p.A640G
c.1919C>G
2 papers
NM_015046.7
p.T663_E665del0
c.1989_1994del6
1 paper
NM_015046.7
p.C637Y
c.1910G>A
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