Varaico: Literature-Extracted Genetic Variants

Gene:SETX
Variant:p.Q2588H

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.Q2588H
c.7764G>T
Surrounding Variants
2 papers
NM_015046.7
p.Q2588H
c.7764G>C
1 paper
NM_015046.7
p.Q2588R
c.7763A>G
1 paper
NM_015046.7
p.P2590L
c.7769C>T
12 papers
NM_015046.7
p.I2587V
c.7759A>G
2 papers
NM_015046.7
p.A2591T
c.7771G>A
1 paper
NM_015046.7
p.I2587_A2591delFs
c.7760_7773del14
1 paper
NM_015046.7
p.V2593L
c.7777G>T
1 paper
NM_015046.7
p.V2593L
c.7777G>C
2 papers
NM_015046.7
p.H2581Y
c.7741C>T
1 paper
NM_015046.7
p.A2596V
c.7787C>T
1 paper
NM_015046.7
p.A2596G
c.7787C>G
1 paper
NM_015046.7
p.V2579G
c.7736T>G
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