Varaico: Literature-Extracted Genetic Variants

Gene:SETX
Variant:p.L2437V

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.L2437V
c.7309C>G
Surrounding Variants
2 papers
NM_015046.7
p.D2440G
c.7319A>G
1 paper
NM_015046.7
p.A2441V
c.7322C>T
1 paper
NM_015046.7
p.N2431insFs
c.7292dupA
6 papers
NM_015046.7
p.R2444C
c.7330C>T
10 papers
NM_015046.7
p.R2444H
c.7331G>A
1 paper
NM_015046.7
p.M2429_E2430Splc
c.7288-2A>G
1 paper
NM_015046.7
p.K2453R
c.7358A>G
1 paper
NM_015046.7
p.Y2455C
c.7364A>G
2 papers
NM_015046.7
p.Y2455*
c.7365T>G
2 papers
NM_015046.7
p.Y2455*
c.7365T>A
1 paper
NM_015046.7
p.Y2455_R2456delFs
c.7365_7366delTA
3 papers
NM_015046.7
p.H2457Y
c.7369C>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."