Varaico: Literature-Extracted Genetic Variants

Gene:SETX
Variant:p.I795_K796delFs

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
4 papers
NM_015046.7
p.I795_K796delFs
c.2385_2388del4
Surrounding Variants
1 paper
NM_015046.7
p.K797R
c.2390A>G
2 papers
NM_015046.7
p.K796fs
c.2386_2387fs
2 papers
NM_015046.7
p.I795_K796del1
c.2385_2387delTTT
1 paper
NM_015046.7
p.H793_I795del3
c.2377_2384del9
1 paper
NM_015046.7
p.R800M
c.2399G>T
1 paper
NM_015046.7
p.K801E
c.2401A>G
1 paper
NM_015046.7
p.H793fs
c.2377_2378fs
1 paper
NM_015046.7
p.H793delFs
c.2378delT
1 paper
NM_015046.7
p.H793fs
c.2377_2378fs
2 papers
NM_015046.7
p.S792P
c.2374T>C
1 paper
NM_015046.7
p.L804S
c.2411T>C
1 paper
NM_015046.7
p.D806N
c.2416G>A
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