Varaico: Literature-Extracted Genetic Variants

Gene:SETX
Variant:p.L1976R

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
20 papers
NM_015046.7
p.L1976R
c.5927T>G
Surrounding Variants
11 papers
NM_015046.7
p.L1977F
c.5929C>T
1 paper
NM_015046.7
p.L1977V
c.5929C>G
1 paper
NM_015046.7
p.G1975G
c.5925C>G
1 paper
NM_015046.7
p.V1974G
c.5921T>G
1 paper
NM_015046.7
p.I1973V
c.5917A>G
1 paper
NM_015046.7
p.E1983K
c.5947G>A
2 papers
NM_015046.7
p.K1969R
c.5906A>G
1 paper
NM_015046.7
p.E1983delFs
c.5948_5949delCT
2 papers
NM_015046.7
p.E1983_N1984Splc
c.5949+5G>A
5 papers
NM_015046.7
p.H1962R
c.5885A>G
1 paper
NM_015046.7
p.L1960M
c.5878T>A
1 paper
NM_015046.7
p.H1951L
c.5852A>T
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