Varaico: Literature-Extracted Genetic Variants

Gene:SETX
Variant:p.D1024_E1025delFs

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.D1024_E1025delFs
c.3070_3073del4
Surrounding Variants
2 papers
NM_015046.7
p.E1025ins1
c.3074_3075insTGA
1 paper
NM_015046.7
p.E1025*
c.3073G>T
1 paper
NM_015046.7
p.E1025ins1
c.3073_3074insTGA
1 paper
NM_015046.7
p.E1025_R1026insFs
c.3075_3076insT
6 papers
NM_015046.7
p.E1025_R1026ins1
c.3075_3076insTGA
2 papers
NM_015046.7
p.D1024del1
c.3070_3071delATC
1 paper
NM_015046.7
p.D1023_E1025del0
c.3069_3074del6
1 paper
NM_015046.7
p.D1024fs
c.3070_3071fs
1 paper
NM_015046.7
p.R1026*
c.3076A>T
1 paper
NM_015046.7
p.R1026ins1
c.3076_3077insTGA
1 paper
NM_015046.7
p.D1023fs
c.3067_3068fs
1 paper
NM_015046.7
p.S1019F
c.3056C>T
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."