Varaico: Literature-Extracted Genetic Variants

Gene:SETX
Variant:p.T1188N

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.T1188N
c.3563C>A
Surrounding Variants
2 papers
NM_015046.7
p.N1189_K1190del1
c.3567_3569delTTA
3 papers
NM_015046.7
p.D1192fs
c.3574_3575fs
1 paper
NM_015046.7
p.D1192_L1193insFs
c.3576_3577insG
11 papers
NM_015046.7
p.D1192E
c.3576T>G
9 papers
NM_015046.7
p.D1192E
c.3576T>A
2 papers
NM_015046.7
p.D1192delFs
c.3575_3576delAT
1 paper
NM_015046.7
p.L1193fs
c.3577_3578fs
1 paper
NM_015046.7
p.D1187_V1194del0
c.3561_3581del21
1 paper
NM_015046.7
p.R1181G
c.3541A>G
1 paper
NM_015046.7
p.G1195_N1196del2
c.3583_3587del6
1 paper
NM_015046.7
p.I1201fs
c.3601_3602fs
1 paper
NM_015046.7
p.D1202delFs
c.3604delC
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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."