Varaico: Literature-Extracted Genetic Variants

Gene:SETX
Variant:p.K827E

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.K827E
c.2479A>G
Surrounding Variants
1 paper
NM_015046.7
p.D828delFs
c.2483delT
3 papers
NM_015046.7
p.E813D
c.2439A>T
3 papers
NM_015046.7
p.E813D
c.2439A>C
2 papers
NM_015046.7
p.I809V
c.2425A>G
1 paper
NM_015046.7
p.S846G
c.2536A>G
1 paper
NM_015046.7
p.S846R
c.2536A>C
1 paper
NM_015046.7
p.S846R
c.2538T>G
1 paper
NM_015046.7
p.S846R
c.2538T>A
1 paper
NM_015046.7
p.D806N
c.2416G>A
1 paper
NM_015046.7
p.L804S
c.2411T>C
1 paper
NM_015046.7
p.K852E
c.2554A>G
1 paper
NM_015046.7
p.D851del1
c.2551_2552delATC
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