Varaico: Literature-Extracted Genetic Variants

Gene:SETX
Variant:p.H1049H

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
3 papers
NM_015046.7
p.H1049H
c.3147C>T
Surrounding Variants
1 paper
NM_015046.7
p.R1043fs
c.3127_3128fs
1 paper
NM_015046.7
p.R1043insFs
c.3127_3128insA
2 papers
NM_015046.7
p.N1054_K1056del0
c.3162_3167del6
1 paper
NM_015046.7
p.K1038N
c.3114A>T
1 paper
NM_015046.7
p.K1038N
c.3114A>C
1 paper
NM_015046.7
p.P1061S
c.3181C>T
2 papers
NM_015046.7
p.P1061L
c.3182C>T
1 paper
NM_015046.7
p.D1037H
c.3109G>C
1 paper
NM_015046.7
p.K1035del1
c.3103_3104delTTT
2 papers
NM_015046.7
p.E1064*
c.3190G>T
1 paper
NM_015046.7
p.T1067P
c.3199A>C
1 paper
NM_015046.7
p.V1062_T1067insFs
c.3185_3201dup17
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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."