Varaico: Literature-Extracted Genetic Variants

Gene:SETX
Variant:p.C43Y

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.C43Y
c.128G>A
Surrounding Variants
1 paper
NM_015046.7
p.C43W
c.129T>G
1 paper
NM_015046.7
p.E42delFs
c.126delC
1 paper
NM_015046.7
p.V44V
c.132G>A
1 paper
NM_015046.7
p.A45T
c.133G>A
1 paper
NM_015046.7
p.E46K
c.136G>A
1 paper
NM_015046.7
p.Y47C
c.140A>G
1 paper
NM_015046.7
p.D34_Y47delFs
c.102_139del38
1 paper
NM_015046.7
p.K49R
c.146A>G
1 paper
NM_015046.7
p.A50P
c.148G>C
1 paper
NM_015046.7
p.R51insFs
c.151_152insC
1 paper
NM_015046.7
p.R51K
c.152G>A
1 paper
NM_015046.7
p.A33_E35Fs
c.98_104delinsTCCFs
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