Varaico: Literature-Extracted Genetic Variants

Gene:SETX
Variant:p.H469R

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.H469R
c.1406A>G
Surrounding Variants
1 paper
NM_015046.7
p.L468L
c.1402C>T
2 papers
NM_015046.7
p.I466M
c.1398T>G
2 papers
NM_015046.7
p.S464L
c.1391C>T
1 paper
NM_015046.7
p.V463A
c.1388T>C
1 paper
NM_015046.7
p.H476R
c.1427A>G
1 paper
NM_015046.7
p.L477S
c.1430T>C
1 paper
NM_015046.7
p.L478L
c.1432C>T
1 paper
NM_015046.7
p.H476_L478del0
c.1427_1432del6
1 paper
NM_015046.7
p.W479*
c.1436G>A
1 paper
NM_015046.7
p.L459fs
c.1375_1376fs
1 paper
NM_015046.7
p.W479*
c.1437G>A
4 papers
NM_015046.7
p.F458L
c.1374T>G
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