Varaico: Literature-Extracted Genetic Variants

Gene:SETX
Variant:p.R299C

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.R299C
c.895C>T
Surrounding Variants
1 paper
NM_015046.7
p.R299L
c.896G>T
3 papers
NM_015046.7
p.F293delFs
c.879delA
1 paper
NM_015046.7
p.F293fs
c.877_878fs
1 paper
NM_015046.7
p.F293L
c.879T>A
1 paper
NM_015046.7
p.C292fs
c.874_875fs
14 papers
NM_015046.7
p.W305C
c.915G>T
1 paper
NM_015046.7
p.C292F
c.875G>T
13 papers
NM_015046.7
p.W305C
c.915G>C
1 paper
NM_015046.7
p.G306S
c.916G>A
1 paper
NM_015046.7
p.Q307*
c.919C>T
1 paper
NM_015046.7
p.P288S
c.862C>T
1 paper
NM_015046.7
p.P288A
c.862C>G
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