Varaico: Literature-Extracted Genetic Variants

Gene:SETX
Variant:p.K1222_K1225delFs

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.K1222_K1225delFs
c.3665_3675del11
Surrounding Variants
1 paper
NM_015046.7
p.K1221_S1223del3
c.3661_3668del9
1 paper
NM_015046.7
p.K1222del1
c.3664_3666delCTT
3 papers
NM_015046.7
p.K1221N
c.3663G>T
3 papers
NM_015046.7
p.K1221N
c.3663G>C
1 paper
NM_015046.7
p.R1234G
c.3700A>G
1 paper
NM_015046.7
p.P1237L
c.3710C>T
1 paper
NM_015046.7
p.K1243E
c.3727A>G
1 paper
NM_015046.7
p.S1206*
c.3617C>A
1 paper
NM_015046.7
p.D1202fs
c.3604_3605fs
1 paper
NM_015046.7
p.D1202delFs
c.3604delC
1 paper
NM_015046.7
p.I1201fs
c.3601_3602fs
9 papers
NM_015046.7
p.G1252R
c.3754G>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."