Varaico: Literature-Extracted Genetic Variants

Gene:SETX
Variant:p.E623D

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.E623D
c.1869A>T
Surrounding Variants
2 papers
NM_015046.7
p.E623D
c.1869A>C
6 papers
NM_015046.7
p.M627T
c.1880T>C
1 paper
NM_015046.7
p.M627K
c.1880T>A
10 papers
NM_015046.7
p.Y619N
c.1855T>A
1 paper
NM_015046.7
p.S615S
c.1845T>C
2 papers
NM_015046.7
p.I614T
c.1841T>C
1 paper
NM_015046.7
p.C637Y
c.1910G>A
1 paper
NM_015046.7
p.A640G
c.1919C>G
10 papers
NM_015046.7
p.N603D
c.1807A>G
1 paper
NM_015046.7
p.F645Y
c.1934T>A
2 papers
NM_015046.7
p.P601P
c.1803A>G
1 paper
NM_015046.7
p.S646F
c.1937C>T
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