Varaico: Literature-Extracted Genetic Variants

Gene:SETX
Variant:p.V1013del1

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.V1013del1
c.3037_3038delAAC
Surrounding Variants
1 paper
NM_015046.7
p.I1016T
c.3047T>C
1 paper
NM_015046.7
p.I1016del1
c.3046_3047delAAT
2 papers
NM_015046.7
p.R1010H
c.3029G>A
1 paper
NM_015046.7
p.S1017_D1018insFs
c.3051_3052insA
1 paper
NM_015046.7
p.S1019F
c.3056C>T
1 paper
NM_015046.7
p.S1019Y
c.3056C>A
2 papers
NM_015046.7
p.G1006R
c.3016G>C
2 papers
NM_015046.7
p.G1006R
c.3016G>A
1 paper
NM_015046.7
p.D1023fs
c.3067_3068fs
1 paper
NM_015046.7
p.D1024fs
c.3070_3071fs
1 paper
NM_015046.7
p.E1025*
c.3073G>T
1 paper
NM_015046.7
p.E1025ins1
c.3073_3074insTGA
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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."