Varaico: Literature-Extracted Genetic Variants

Gene:SETX
Variant:p.I1520T

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
2 papers
NM_015046.7
p.I1520T
c.4559T>C
Surrounding Variants
1 paper
NM_015046.7
p.L1522Q
c.4565T>A
1 paper
NM_015046.7
p.E1521_I1523del3
c.4561_4568del9
1 paper
NM_015046.7
p.E1533G
c.4598A>G
3 papers
NM_015046.7
p.M1506T
c.4517T>C
3 papers
NM_015046.7
p.P1503T
c.4507C>A
2 papers
NM_015046.7
p.R1538W
c.4612C>T
1 paper
NM_015046.7
p.R1538delFs
c.4614delC
1 paper
NM_015046.7
p.T1499A
c.4495A>G
1 paper
NM_015046.7
p.S1543F
c.4628C>T
1 paper
NM_015046.7
p.S1545fs
c.4633_4634fs
2 papers
NM_015046.7
p.S1545_G1546delFs
c.4633_4636del4
1 paper
NM_015046.7
p.D1494Y
c.4480G>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."