Varaico: Literature-Extracted Genetic Variants

Gene:SETX
Variant:p.L1960M

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.L1960M
c.5878T>A
Surrounding Variants
5 papers
NM_015046.7
p.H1962R
c.5885A>G
1 paper
NM_015046.7
p.H1951L
c.5852A>T
2 papers
NM_015046.7
p.K1969R
c.5906A>G
6 papers
NM_015046.7
p.M1948V
c.5842A>G
1 paper
NM_015046.7
p.A1947G
c.5840C>G
1 paper
NM_015046.7
p.I1973V
c.5917A>G
1 paper
NM_015046.7
p.V1974G
c.5921T>G
1 paper
NM_015046.7
p.A1945V
c.5834C>T
7 papers
NM_015046.7
p.A1945P
c.5833G>C
1 paper
NM_015046.7
p.I1942_T1944del3
c.5824_5831del9
1 paper
NM_015046.7
p.G1975G
c.5925C>G
1 paper
NM_015046.7
p.A1941_T1944delFs
c.5821_5830del10
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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."