Varaico: Literature-Extracted Genetic Variants

Gene:SETX
Variant:p.W410delFs

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.W410delFs
c.1229delC
Surrounding Variants
1 paper
NM_015046.7
p.T407_F408del1
c.1221_1223delAAT
12 papers
NM_015046.7
p.P413L
c.1238C>T
1 paper
NM_015046.7
p.Q416H
c.1248G>T
1 paper
NM_015046.7
p.N405I
c.1214A>T
1 paper
NM_015046.7
p.N405Y
c.1213A>T
1 paper
NM_015046.7
p.S417F
c.1250C>T
1 paper
NM_015046.7
p.S417delins
c.1250_1251delinsAG
1 paper
NM_015046.7
p.M419V
c.1255A>G
1 paper
NM_015046.7
p.M419R
c.1256T>G
1 paper
NM_015046.7
p.R402H
c.1205G>A
1 paper
NM_015046.7
p.R402C
c.1204C>T
1 paper
NM_015046.7
p.D420E
c.1260T>G
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