Varaico: Literature-Extracted Genetic Variants

Gene:SETX
Variant:p.E717delFs

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.E717delFs
c.2151delC
Surrounding Variants
1 paper
NM_015046.7
p.Q704_I705del0
c.2110_2115del6
1 paper
NM_015046.7
p.I705L
c.2113A>C
1 paper
NM_015046.7
p.R734G
c.2200A>G
1 paper
NM_015046.7
p.R734S
c.2202G>T
1 paper
NM_015046.7
p.R734S
c.2202G>C
1 paper
NM_015046.7
p.R700G
c.2098A>G
1 paper
NM_015046.7
p.I740T
c.2219T>C
1 paper
NM_015046.7
p.I741L
c.2221A>C
1 paper
NM_015046.7
p.S743L
c.2228C>T
1 paper
NM_015046.7
p.T744R
c.2231C>G
1 paper
NM_015046.7
p.S750Y
c.2249C>A
1 paper
NM_015046.7
p.D753N
c.2257G>A
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