Varaico: Literature-Extracted Genetic Variants

Gene:SETX
Variant:p.S1366P

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
3 papers
NM_015046.7
p.S1366P
c.4096T>C
Surrounding Variants
12 papers
NM_015046.7
p.R1363*
c.4087C>T
3 papers
NM_015046.7
p.Q1359*
c.4075C>T
2 papers
NM_015046.7
p.Q1382*
c.4144C>T
2 papers
NM_015046.7
p.S1384T
c.4150T>A
2 papers
NM_015046.7
p.Q1346*
c.4036C>T
13 papers
NM_015046.7
p.I1386V
c.4156A>G
1 paper
NM_015046.7
p.F1387_V1388insFs
c.4161_4162insTT
1 paper
NM_015046.7
p.L1342R
c.4025T>G
1 paper
NM_015046.7
p.K1341del1
c.4021_4022delTTT
1 paper
NM_015046.7
p.K1340_K1341del1
c.4020_4022delTTC
1 paper
NM_015046.7
p.D1392insFs
c.4175_4176insCA
1 paper
NM_015046.7
p.Y1396C
c.4187A>G
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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."