Varaico: Literature-Extracted Genetic Variants

Gene:SETX
Variant:p.T14I

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
6 papers
NM_015046.7
p.T14I
c.41C>T
Surrounding Variants
1 paper
NM_015046.7
p.G10V
c.29G>T
1 paper
NM_015046.7
p.G10R
c.28G>C
1 paper
NM_015046.7
p.L18L
c.54A>G
13 papers
NM_015046.7
p.R20H
c.59G>A
1 paper
NM_015046.7
p.L18_R20del0
c.53_58del6
7 papers
NM_015046.7
p.T8M
c.23C>T
1 paper
NM_015046.7
p.T8fs
c.22_23fs
1 paper
NM_015046.7
p.T8S
c.22A>T
1 paper
NM_015046.7
p.T8insFs
c.22_23insTA
1 paper
NM_015046.7
p.Y21C
c.62A>G
1 paper
NM_015046.7
p.A22_S23insTA
c.64_68ins6
1 paper
NM_015046.7
p.A22T
c.64G>A
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