Varaico: Literature-Extracted Genetic Variants

Gene:SETX
Variant:p.T3I

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
37 papers
NM_015046.7
p.T3I
c.8C>T
Surrounding Variants
1 paper
NM_015046.7
p.T3T
c.9A>G
2 papers
NM_015046.7
p.S2R
c.6C>G
1 paper
NM_015046.7
p.S2insFs
c.4_5insT
2 papers
NM_015046.7
p.M1insFs
c.2_3insT
1 paper
NM_015046.7
p.M1insFs
c.2_3insA
1 paper
NM_015046.7
p.M1ins4
c.2_3ins12
2 papers
NM_015046.7
p.M1T
c.2T>C
1 paper
NM_015046.7
p.M1K
c.2T>A
1 paper
NM_015046.7
p.C5insFs
c.13_14insT
1 paper
NM_015046.7
p.C4delFs
c.12delA
1 paper
NM_015046.7
p.M1V
c.1A>G
1 paper
NM_015046.7
p.C4del1
c.10_12delACA
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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."