Varaico: Literature-Extracted Genetic Variants

Gene:SETX
Variant:p.F597L

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.F597L
c.1791C>A
Surrounding Variants
1 paper
NM_015046.7
p.F597L
c.1791C>G
1 paper
NM_015046.7
p.F597L
c.1789T>C
1 paper
NM_015046.7
p.A599T
c.1795G>A
2 papers
NM_015046.7
p.P601P
c.1803A>G
10 papers
NM_015046.7
p.N603D
c.1807A>G
2 papers
NM_015046.7
p.I591V
c.1771A>G
4 papers
NM_015046.7
p.L584V
c.1750C>G
2 papers
NM_015046.7
p.I614T
c.1841T>C
1 paper
NM_015046.7
p.E580delFs
c.1738delC
1 paper
NM_015046.7
p.E580fs
c.1738_1739fs
1 paper
NM_015046.7
p.S615S
c.1845T>C
10 papers
NM_015046.7
p.Y619N
c.1855T>A
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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."