Varaico: Literature-Extracted Genetic Variants

Gene:SETX
Variant:p.Q2141fs

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.Q2141fs
c.6421_6422fs
Surrounding Variants
3 papers
NM_015046.7
p.Q2141insFs
c.6422dupA
2 papers
NM_015046.7
p.Q2141delFs
c.6421_6422delTG
3 papers
NM_015046.7
p.S2142fs
c.6424_6425fs
1 paper
NM_015046.7
p.K2139R
c.6416A>G
1 paper
NM_015046.7
p.P2137S
c.6409C>T
49 papers
NM_015046.7
p.R2136H
c.6407G>A
5 papers
NM_015046.7
p.R2136C
c.6406C>T
1 paper
NM_015046.7
p.E2147Q
c.6439G>C
2 papers
NM_015046.7
p.I2151del1
c.6451_6452delGAT
1 paper
NM_015046.7
p.T2154M
c.6461C>T
6 papers
NM_015046.7
p.L2155W
c.6464T>G
1 paper
NM_015046.7
p.L2161F
c.6483A>T
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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."