Varaico: Literature-Extracted Genetic Variants

Gene:SETX
Variant:p.M419R

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.M419R
c.1256T>G
Surrounding Variants
1 paper
NM_015046.7
p.M419V
c.1255A>G
1 paper
NM_015046.7
p.D420E
c.1260T>G
1 paper
NM_015046.7
p.D420E
c.1260T>A
1 paper
NM_015046.7
p.L421F
c.1261C>T
1 paper
NM_015046.7
p.S417delins
c.1250_1251delinsAG
1 paper
NM_015046.7
p.S417F
c.1250C>T
1 paper
NM_015046.7
p.Q416H
c.1248G>T
1 paper
NM_015046.7
p.G425C
c.1273G>T
2 papers
NM_015046.7
p.G425A
c.1274G>C
12 papers
NM_015046.7
p.P413L
c.1238C>T
1 paper
NM_015046.7
p.G425G
c.1275T>G
1 paper
NM_015046.7
p.W410delFs
c.1229delC
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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."