Varaico: Literature-Extracted Genetic Variants

Gene:SETX
Variant:p.F150Y

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.F150Y
c.449T>A
Surrounding Variants
1 paper
NM_015046.7
p.V149G
c.446T>G
1 paper
NM_015046.7
p.Q148*
c.442C>T
1 paper
NM_015046.7
p.P154S
c.460C>T
9 papers
NM_015046.7
p.N144S
c.431A>G
2 papers
NM_015046.7
p.N144D
c.430A>G
15 papers
NM_015046.7
p.L158V
c.472T>G
1 paper
NM_015046.7
p.E141*
c.421G>T
2 papers
NM_015046.7
p.V161G
c.482T>G
1 paper
NM_015046.7
p.L137F
c.409C>T
1 paper
NM_015046.7
p.A136V
c.407C>T
1 paper
NM_015046.7
p.E135G
c.404A>G
1 paper
NM_015046.7
p.M166R
c.497T>G
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