Varaico: Literature-Extracted Genetic Variants

Gene:SETX
Variant:p.K441insFs

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.K441insFs
c.1322_1323ins5
Surrounding Variants
1 paper
NM_015046.7
p.V443F
c.1327G>T
1 paper
NM_015046.7
p.Y437_V443delFs
c.1310_1328del19
1 paper
NM_015046.7
p.Y437F
c.1310A>T
5 papers
NM_015046.7
p.H435R
c.1304A>G
3 papers
NM_015046.7
p.D448G
c.1343A>G
1 paper
NM_015046.7
p.Q431*
c.1291C>T
1 paper
NM_015046.7
p.V454L
c.1360G>C
1 paper
NM_015046.7
p.Y428N
c.1282T>A
1 paper
NM_015046.7
p.E456V
c.1367A>T
1 paper
NM_015046.7
p.E456D
c.1368A>C
1 paper
NM_015046.7
p.G425G
c.1275T>G
4 papers
NM_015046.7
p.F458L
c.1372T>C
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