Varaico: Literature-Extracted Genetic Variants

Gene:SETX
Variant:p.S323G

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.S323G
c.967A>G
Surrounding Variants
5 papers
NM_015046.7
p.S323N
c.968G>A
1 paper
NM_015046.7
p.N321N
c.963C>T
1 paper
NM_015046.7
p.N321Y
c.961A>T
3 papers
NM_015046.7
p.E327V
c.980A>T
1 paper
NM_015046.7
p.I318N
c.953T>A
1 paper
NM_015046.7
p.R329P
c.986G>C
1 paper
NM_015046.7
p.I331L
c.991A>T
1 paper
NM_015046.7
p.I331V
c.991A>G
1 paper
NM_015046.7
p.I331L
c.991A>C
1 paper
NM_015046.7
p.I331T
c.992T>C
3 papers
NM_015046.7
p.I331K
c.992T>A
12 papers
NM_015046.7
p.R332W
c.994C>T
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