Varaico: Literature-Extracted Genetic Variants

Gene:SETX
Variant:p.I2547T

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
31 papers
NM_015046.7
p.I2547T
c.7640T>C
Surrounding Variants
2 papers
NM_015046.7
p.E2548*
c.7642G>T
2 papers
NM_015046.7
p.I2547insFs
c.7641dupT
1 paper
NM_015046.7
p.G2546delFs
c.7637delC
1 paper
NM_015046.7
p.G2546fs
c.7636_7637fs
4 papers
NM_015046.7
p.V2549I
c.7645G>A
1 paper
NM_015046.7
p.M2545K
c.7634T>A
1 paper
NM_015046.7
p.L2542delFs
c.7626delC
1 paper
NM_015046.7
p.G2551_I2553del3
c.7651_7658del9
2 papers
NM_015046.7
p.R2540L
c.7619G>T
1 paper
NM_015046.7
p.Q2559L
c.7676A>T
1 paper
NM_015046.7
p.D2534Y
c.7600G>T
4 papers
NM_015046.7
p.S2561L
c.7682C>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."