Varaico: Literature-Extracted Genetic Variants

Gene:SETX
Variant:p.T760A

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
2 papers
NM_015046.7
p.T760A
c.2278A>G
Surrounding Variants
1 paper
NM_015046.7
p.S761L
c.2282C>T
1 paper
NM_015046.7
p.N762Y
c.2284A>T
4 papers
NM_015046.7
p.E756V
c.2267A>T
1 paper
NM_015046.7
p.D764A
c.2291A>C
1 paper
NM_015046.7
p.D753N
c.2257G>A
1 paper
NM_015046.7
p.S750Y
c.2249C>A
1 paper
NM_015046.7
p.A771P
c.2311G>C
1 paper
NM_015046.7
p.F765_A773del9
c.2293_2318del27
1 paper
NM_015046.7
p.T744R
c.2231C>G
1 paper
NM_015046.7
p.S743L
c.2228C>T
2 papers
NM_015046.7
p.R778*
c.2332C>T
1 paper
NM_015046.7
p.I741L
c.2221A>C
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