Varaico: Literature-Extracted Genetic Variants

Gene:SETX
Variant:p.P948T

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
4 papers
NM_015046.7
p.P948T
c.2842C>A
Surrounding Variants
1 paper
NM_015046.7
p.D945delFs
c.2835delG
1 paper
NM_015046.7
p.D945fs
c.2833_2834fs
1 paper
NM_015046.7
p.D945fs
c.2833_2834fs
1 paper
NM_015046.7
p.A943T
c.2827G>A
1 paper
NM_015046.7
p.D955N
c.2863G>A
1 paper
NM_015046.7
p.L938F
c.2814G>T
1 paper
NM_015046.7
p.L938F
c.2814G>C
1 paper
NM_015046.7
p.L938V
c.2812T>G
1 paper
NM_015046.7
p.I958delFs
c.2872delT
1 paper
NM_015046.7
p.H963Y
c.2887C>T
2 papers
NM_015046.7
p.I974T
c.2921T>C
1 paper
NM_015046.7
p.V919fs
c.2755_2756fs
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