Varaico: Literature-Extracted Genetic Variants

Gene:SETX
Variant:p.K992R

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
17 papers
NM_015046.7
p.K992R
c.2975A>G
Surrounding Variants
1 paper
NM_015046.7
p.V991A
c.2972T>C
2 papers
NM_015046.7
p.R989_K990delFs
c.2966_2970del5
2 papers
NM_015046.7
p.D994G
c.2981A>G
1 paper
NM_015046.7
p.R989fs
c.2965_2966fs
2 papers
NM_015046.7
p.R989fs
c.2965_2966fs
1 paper
NM_015046.7
p.Q988Q
c.2964A>G
2 papers
NM_015046.7
p.Q988fs
c.2962_2963fs
1 paper
NM_015046.7
p.C997fs
c.2989_2990fs
1 paper
NM_015046.7
p.C997delFs
c.2990delC
1 paper
NM_015046.7
p.Q1002R
c.3005A>G
2 papers
NM_015046.7
p.G1006R
c.3016G>C
2 papers
NM_015046.7
p.G1006R
c.3016G>A
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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."