Varaico: Literature-Extracted Genetic Variants

Gene:SETX
Variant:p.Y2455*

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
2 papers
NM_015046.7
p.Y2455*
c.7365T>G
Surrounding Variants
2 papers
NM_015046.7
p.Y2455*
c.7365T>A
1 paper
NM_015046.7
p.Y2455C
c.7364A>G
1 paper
NM_015046.7
p.Y2455_R2456delFs
c.7365_7366delTA
3 papers
NM_015046.7
p.H2457Y
c.7369C>T
1 paper
NM_015046.7
p.H2457H
c.7371T>C
1 paper
NM_015046.7
p.H2457ins0
c.7369_7371dupCAT
1 paper
NM_015046.7
p.K2453R
c.7358A>G
1 paper
NM_015046.7
p.I2462N
c.7385T>A
10 papers
NM_015046.7
p.R2444H
c.7331G>A
6 papers
NM_015046.7
p.R2444C
c.7330C>T
1 paper
NM_015046.7
p.L2469P
c.7406T>C
1 paper
NM_015046.7
p.A2441V
c.7322C>T
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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."