Varaico: Literature-Extracted Genetic Variants

Gene:SETX
Variant:p.V1446L

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.V1446L
c.4336G>T
Surrounding Variants
1 paper
NM_015046.7
p.V1446L
c.4336G>C
1 paper
NM_015046.7
p.G1449*
c.4345G>T
5 papers
NM_015046.7
p.Q1441*
c.4321C>T
1 paper
NM_015046.7
p.V1451A
c.4352T>C
1 paper
NM_015046.7
p.T1453K
c.4358C>A
1 paper
NM_015046.7
p.D1434_C1437delFs
c.4301_4310del10
1 paper
NM_015046.7
p.D1434fs
c.4300_4301fs
1 paper
NM_015046.7
p.S1459A
c.4375T>G
1 paper
NM_015046.7
p.T1433A
c.4297A>G
1 paper
NM_015046.7
p.S1459F
c.4376C>T
1 paper
NM_015046.7
p.S1430F
c.4289C>T
1 paper
NM_015046.7
p.H1428R
c.4283A>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."