Varaico: Literature-Extracted Genetic Variants

Gene:SETX
Variant:p.Q399fs

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.Q399fs
c.1195_1196fs
Surrounding Variants
1 paper
NM_015046.7
p.Q399delFs
c.1195_1196delTG
1 paper
NM_015046.7
p.M401T
c.1202T>C
1 paper
NM_015046.7
p.G398R
c.1192G>C
1 paper
NM_015046.7
p.R402C
c.1204C>T
1 paper
NM_015046.7
p.R402H
c.1205G>A
1 paper
NM_015046.7
p.S395L
c.1184C>T
1 paper
NM_015046.7
p.S395A
c.1183T>G
1 paper
NM_015046.7
p.N405Y
c.1213A>T
1 paper
NM_015046.7
p.Q394E
c.1180C>G
1 paper
NM_015046.7
p.N405I
c.1214A>T
1 paper
NM_015046.7
p.S391N
c.1172G>A
1 paper
NM_015046.7
p.T407_F408del1
c.1221_1223delAAT
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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."