Varaico: Literature-Extracted Genetic Variants

Gene:SETX
Variant:p.T2521I

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.T2521I
c.7562C>T
Surrounding Variants
1 paper
NM_015046.7
p.L2520_T2521del0
c.7558_7563del6
1 paper
NM_015046.7
p.K2525E
c.7573A>G
1 paper
NM_015046.7
p.E2517K
c.7549G>A
1 paper
NM_015046.7
p.R2529G
c.7585A>G
1 paper
NM_015046.7
p.S2513F
c.7538C>T
1 paper
NM_015046.7
p.P2512L
c.7535C>T
1 paper
NM_015046.7
p.P2530P
c.7590T>A
1 paper
NM_015046.7
p.P2531L
c.7592C>T
1 paper
NM_015046.7
p.H2533Y
c.7597C>T
1 paper
NM_015046.7
p.D2534Y
c.7600G>T
2 papers
NM_015046.7
p.R2540L
c.7619G>T
1 paper
NM_015046.7
p.L2542delFs
c.7626delC
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