Varaico: Literature-Extracted Genetic Variants

Gene:SETX
Variant:p.S2497R

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.S2497R
c.7491T>A
Surrounding Variants
1 paper
NM_015046.7
p.S2497N
c.7490G>A
1 paper
NM_015046.7
p.G2488D
c.7463G>A
1 paper
NM_015046.7
p.G2483delFs
c.7449delC
1 paper
NM_015046.7
p.G2483fs
c.7447_7448fs
1 paper
NM_015046.7
p.G2483R
c.7447G>C
1 paper
NM_015046.7
p.G2483R
c.7447G>A
1 paper
NM_015046.7
p.P2512L
c.7535C>T
1 paper
NM_015046.7
p.S2513F
c.7538C>T
1 paper
NM_015046.7
p.I2479V
c.7435A>G
1 paper
NM_015046.7
p.E2517K
c.7549G>A
1 paper
NM_015046.7
p.T2521I
c.7562C>T
1 paper
NM_015046.7
p.L2520_T2521del0
c.7558_7563del6
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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."