Varaico: Literature-Extracted Genetic Variants

Gene:SETX
Variant:p.K1133insFs

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
2 papers
NM_015046.7
p.K1133insFs
c.3399dupA
Surrounding Variants
1 paper
NM_015046.7
p.T1142_R1143insFs
c.3426_3427insA
1 paper
NM_015046.7
p.R1145W
c.3433C>T
1 paper
NM_015046.7
p.S1146G
c.3436A>G
1 paper
NM_015046.7
p.S1146T
c.3437G>C
1 paper
NM_015046.7
p.S1146N
c.3437G>A
1 paper
NM_015046.7
p.V1149F
c.3445G>T
1 paper
NM_015046.7
p.N1119H
c.3355A>C
14 papers
NM_015046.7
p.T1118I
c.3353C>T
2 papers
NM_015046.7
p.T1118K
c.3353C>A
11 papers
NM_015046.7
p.F1152C
c.3455T>G
1 paper
NM_015046.7
p.A1112A
c.3336T>C
1 paper
NM_015046.7
p.E1156fs
c.3466_3467fs
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."