Varaico: Literature-Extracted Genetic Variants

Gene:SETX
Variant:p.P496L

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
3 papers
NM_015046.7
p.P496L
c.1487C>T
Surrounding Variants
1 paper
NM_015046.7
p.L495P
c.1484T>C
1 paper
NM_015046.7
p.L495F
c.1483C>T
1 paper
NM_015046.7
p.T498insFs
c.1493_1494insT
1 paper
NM_015046.7
p.A499V
c.1496C>T
13 papers
NM_015046.7
p.R502W
c.1504C>T
5 papers
NM_015046.7
p.V490I
c.1468G>A
1 paper
NM_015046.7
p.W485S
c.1454G>C
1 paper
NM_015046.7
p.S507_S508del1
c.1521_1523delGAT
1 paper
NM_015046.7
p.S508del1
c.1522_1523delAGA
1 paper
NM_015046.7
p.W479*
c.1437G>A
1 paper
NM_015046.7
p.W479*
c.1436G>A
1 paper
NM_015046.7
p.K513R
c.1538A>G
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