Varaico: Literature-Extracted Genetic Variants

Gene:SETX
Variant:p.Q552H

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.Q552H
c.1656G>T
Surrounding Variants
1 paper
NM_015046.7
p.Q552H
c.1656G>C
1 paper
NM_015046.7
p.Q552P
c.1655A>C
1 paper
NM_015046.7
p.S553F
c.1658C>T
1 paper
NM_015046.7
p.L549_S553del0
c.1647_1658del12
6 papers
NM_015046.7
p.R557*
c.1669C>T
1 paper
NM_015046.7
p.Q548R
c.1643A>G
1 paper
NM_015046.7
p.Q548*
c.1642C>T
1 paper
NM_015046.7
p.K561R
c.1682A>G
1 paper
NM_015046.7
p.K561T
c.1682A>C
2 papers
NM_015046.7
p.N563S
c.1688A>G
6 papers
NM_015046.7
p.L564V
c.1690T>G
1 paper
NM_015046.7
p.R567_G568insA
c.1699_1703ins3
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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."