Varaico: Literature-Extracted Genetic Variants

Gene:SETX
Variant:p.W574L

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.W574L
c.1721G>T
Surrounding Variants
1 paper
NM_015046.7
p.Q575*
c.1723C>T
1 paper
NM_015046.7
p.N569S
c.1706A>G
1 paper
NM_015046.7
p.E580fs
c.1738_1739fs
1 paper
NM_015046.7
p.E580delFs
c.1738delC
1 paper
NM_015046.7
p.R567K
c.1700G>A
1 paper
NM_015046.7
p.R567_G568insA
c.1699_1703ins3
4 papers
NM_015046.7
p.L584V
c.1750C>G
6 papers
NM_015046.7
p.L564V
c.1690T>G
2 papers
NM_015046.7
p.N563S
c.1688A>G
1 paper
NM_015046.7
p.K561R
c.1682A>G
1 paper
NM_015046.7
p.K561T
c.1682A>C
2 papers
NM_015046.7
p.I591V
c.1771A>G
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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."