Varaico: Literature-Extracted Genetic Variants

Gene:SETX
Variant:p.S1628*

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.S1628*
c.4883C>A
Surrounding Variants
1 paper
NM_015046.7
p.S1628L
c.4883C>T
2 papers
NM_015046.7
p.S1628*
c.4883C>G
1 paper
NM_015046.7
p.K1629E
c.4885A>G
1 paper
NM_015046.7
p.G1630W
c.4888G>T
1 paper
NM_015046.7
p.G1630E
c.4889G>A
2 papers
NM_015046.7
p.Q1632*
c.4894C>T
3 papers
NM_015046.7
p.P1622L
c.4865C>T
1 paper
NM_015046.7
p.K1636*
c.4906A>T
1 paper
NM_015046.7
p.A1619S
c.4855G>T
2 papers
NM_015046.7
p.S1618*
c.4853C>G
2 papers
NM_015046.7
p.S1618*
c.4853C>A
1 paper
NM_015046.7
p.P1642T
c.4924C>A
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."