Varaico: Literature-Extracted Genetic Variants

Gene:SETX
Variant:p.R1294H

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.R1294H
c.3881G>A
Surrounding Variants
6 papers
NM_015046.7
p.R1294C
c.3880C>T
1 paper
NM_015046.7
p.Y1297C
c.3890A>G
1 paper
NM_015046.7
p.S1300F
c.3899C>T
1 paper
NM_015046.7
p.Q1301R
c.3902A>G
1 paper
NM_015046.7
p.L1304W
c.3911T>G
1 paper
NM_015046.7
p.T1283I
c.3848C>T
2 papers
NM_015046.7
p.Y1306C
c.3917A>G
1 paper
NM_015046.7
p.L1310F
c.3930A>T
1 paper
NM_015046.7
p.L1310F
c.3930A>C
1 paper
NM_015046.7
p.L1310insFs
c.3930dupA
7 papers
NM_015046.7
p.Q1276E
c.3826C>G
1 paper
NM_015046.7
p.R1275H
c.3824G>A
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