Varaico: Literature-Extracted Genetic Variants

Gene:SETX
Variant:p.S1545fs

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.S1545fs
c.4633_4634fs
Surrounding Variants
2 papers
NM_015046.7
p.S1545_G1546delFs
c.4633_4636del4
1 paper
NM_015046.7
p.S1543F
c.4628C>T
1 paper
NM_015046.7
p.R1538delFs
c.4614delC
2 papers
NM_015046.7
p.R1538W
c.4612C>T
32 papers
NM_015046.7
p.C1554G
c.4660T>G
1 paper
NM_015046.7
p.E1533G
c.4598A>G
1 paper
NM_015046.7
p.T1558A
c.4672A>G
1 paper
NM_015046.7
p.N1560fs
c.4678_4679fs
3 papers
NM_015046.7
p.N1560fs
c.4678_4679fs
2 papers
NM_015046.7
p.N1560insFs
c.4679dupA
1 paper
NM_015046.7
p.G1562D
c.4685G>A
1 paper
NM_015046.7
p.E1521_I1523del3
c.4561_4568del9
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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."