Varaico: Literature-Extracted Genetic Variants

Gene:SETX
Variant:p.G2483R

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.G2483R
c.7447G>A
Surrounding Variants
1 paper
NM_015046.7
p.G2483R
c.7447G>C
1 paper
NM_015046.7
p.G2483fs
c.7447_7448fs
1 paper
NM_015046.7
p.G2483delFs
c.7449delC
1 paper
NM_015046.7
p.I2479V
c.7435A>G
1 paper
NM_015046.7
p.G2488D
c.7463G>A
2 papers
NM_015046.7
p.L2473V
c.7417C>G
1 paper
NM_015046.7
p.L2469P
c.7406T>C
1 paper
NM_015046.7
p.S2497N
c.7490G>A
1 paper
NM_015046.7
p.S2497R
c.7491T>A
1 paper
NM_015046.7
p.I2462N
c.7385T>A
1 paper
NM_015046.7
p.H2457ins0
c.7369_7371dupCAT
1 paper
NM_015046.7
p.H2457H
c.7371T>C
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