Varaico: Literature-Extracted Genetic Variants

Gene:SETX
Variant:p.C4del1

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.C4del1
c.10_12delACA
Surrounding Variants
1 paper
NM_015046.7
p.C5insFs
c.13_14insT
1 paper
NM_015046.7
p.C4delFs
c.12delA
1 paper
NM_015046.7
p.T8fs
c.22_23fs
1 paper
NM_015046.7
p.T8S
c.22A>T
1 paper
NM_015046.7
p.T8insFs
c.22_23insTA
7 papers
NM_015046.7
p.T8M
c.23C>T
1 paper
NM_015046.7
p.T3T
c.9A>G
1 paper
NM_015046.7
p.G10R
c.28G>C
37 papers
NM_015046.7
p.T3I
c.8C>T
1 paper
NM_015046.7
p.G10V
c.29G>T
2 papers
NM_015046.7
p.S2R
c.6C>G
1 paper
NM_015046.7
p.S2insFs
c.4_5insT
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