Varaico: Literature-Extracted Genetic Variants

Gene:SETX

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
1–12 of 1093 variants
64 papers
NM_015046.7
p.L389S
c.1166T>C
49 papers
NM_015046.7
p.R2136H
c.6407G>A
37 papers
NM_015046.7
p.T3I
c.8C>T
32 papers
NM_015046.7
p.C1554G
c.4660T>G
31 papers
NM_015046.7
p.I2547T
c.7640T>C
20 papers
NM_015046.7
p.L1976R
c.5927T>G
17 papers
NM_015046.7
p.K992R
c.2975A>G
17 papers
NM_015046.7
p.E1770_N1771delFs
c.5308_5311del4
15 papers
NM_015046.7
p.L158V
c.472T>G
14 papers
NM_015046.7
p.W305C
c.915G>T
14 papers
NM_015046.7
p.T1118I
c.3353C>T
14 papers
NM_015046.7
p.K2029E
c.6085A>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."