Varaico: Literature-Extracted Genetic Variants

Gene:SETX
Variant:p.R1606_I1607insFs

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.R1606_I1607insFs
c.4818_4821dup4
Surrounding Variants
1 paper
NM_015046.7
p.A1608fs
c.4822_4823fs
6 papers
NM_015046.7
p.R1606*
c.4816C>T
1 paper
NM_015046.7
p.L1610F
c.4828C>T
2 papers
NM_015046.7
p.F1599S
c.4796T>C
2 papers
NM_015046.7
p.S1618*
c.4853C>G
2 papers
NM_015046.7
p.S1618*
c.4853C>A
1 paper
NM_015046.7
p.A1619S
c.4855G>T
3 papers
NM_015046.7
p.P1622L
c.4865C>T
2 papers
NM_015046.7
p.A1588T
c.4762G>A
1 paper
NM_015046.7
p.S1628L
c.4883C>T
2 papers
NM_015046.7
p.S1628*
c.4883C>G
2 papers
NM_015046.7
p.S1628*
c.4883C>A
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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."