Varaico: Literature-Extracted Genetic Variants

Gene:SETX
Variant:p.V919delFs

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.V919delFs
c.2755_2756delAC
Surrounding Variants
1 paper
NM_015046.7
p.V919fs
c.2755_2756fs
6 papers
NM_015046.7
p.V919L
c.2755G>T
6 papers
NM_015046.7
p.V919L
c.2755G>C
1 paper
NM_015046.7
p.V919I
c.2755G>A
1 paper
NM_015046.7
p.V919fs
c.2755_2756fs
2 papers
NM_015046.7
p.T918I
c.2753C>T
6 papers
NM_015046.7
p.M917T
c.2750T>C
3 papers
NM_015046.7
p.M917fs
c.2749_2750fs
1 paper
NM_015046.7
p.M917V
c.2749A>G
3 papers
NM_015046.7
p.L916insFs
c.2747_2748insAT
1 paper
NM_015046.7
p.L916ins1
c.2747_2748insATC
1 paper
NM_015046.7
p.L916I
c.2746C>A
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