Varaico: Literature-Extracted Genetic Variants

Gene:SETX
Variant:p.M1652V

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.M1652V
c.4954A>G
Surrounding Variants
2 papers
NM_015046.7
p.M1652R
c.4955T>G
1 paper
NM_015046.7
p.M1652I
c.4956G>T
1 paper
NM_015046.7
p.M1652I
c.4956G>C
1 paper
NM_015046.7
p.M1652I
c.4956G>A
2 papers
NM_015046.7
p.K1653E
c.4957A>G
1 paper
NM_015046.7
p.N1654S
c.4961A>G
1 paper
NM_015046.7
p.S1655*
c.4964C>A
1 paper
NM_015046.7
p.I1644delFs
c.4931_4932delTA
1 paper
NM_015046.7
p.K1647_V1658del12
c.4939_4973del36
1 paper
NM_015046.7
p.I1644fs
c.4930_4931fs
1 paper
NM_015046.7
p.H1660R
c.4979A>G
2 papers
NM_015046.7
p.P1661R
c.4982C>G
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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."