Varaico: Literature-Extracted Genetic Variants

Gene:SETX
Variant:p.S1091P

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.S1091P
c.3271T>C
Surrounding Variants
1 paper
NM_015046.7
p.F1090C
c.3269T>G
2 papers
NM_015046.7
p.V1089M
c.3265G>A
1 paper
NM_015046.7
p.E1088*
c.3262G>T
1 paper
NM_015046.7
p.Q1094R
c.3281A>G
1 paper
NM_015046.7
p.S1087F
c.3260C>T
1 paper
NM_015046.7
p.H1096fs
c.3286_3287fs
1 paper
NM_015046.7
p.H1096Y
c.3286C>T
2 papers
NM_015046.7
p.H1096R
c.3287A>G
1 paper
NM_015046.7
p.H1096_P1097delFs
c.3288_3291del4
1 paper
NM_015046.7
p.N1100D
c.3298A>G
2 papers
NM_015046.7
p.N1100S
c.3299A>G
1 paper
NM_015046.7
p.F1081S
c.3242T>C
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