Varaico: Literature-Extracted Genetic Variants

Gene:SETX
Variant:p.D34N

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
1 paper
NM_015046.7
p.D34N
c.100G>A
Surrounding Variants
1 paper
NM_015046.7
p.A33P
c.97G>C
1 paper
NM_015046.7
p.A33_E35Fs
c.98_104delinsTCCFs
1 paper
NM_015046.7
p.G28S
c.82G>A
2 papers
NM_015046.7
p.S27fs
c.79_80fs
1 paper
NM_015046.7
p.P26L
c.77C>T
1 paper
NM_015046.7
p.T25insFs
c.74_75insT
1 paper
NM_015046.7
p.E42delFs
c.126delC
1 paper
NM_015046.7
p.C43Y
c.128G>A
1 paper
NM_015046.7
p.C43W
c.129T>G
1 paper
NM_015046.7
p.N24S
c.71A>G
1 paper
NM_015046.7
p.S23_N24insFs
c.69_70insG
1 paper
NM_015046.7
p.V44V
c.132G>A
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