Varaico: Literature-Extracted Genetic Variants

Gene:SETX
Variant:p.P2625L

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.P2625L
c.7874C>T
Surrounding Variants
1 paper
NM_015046.7
p.P2625R
c.7874C>G
1 paper
NM_015046.7
p.E2627K
c.7879G>A
2 papers
NM_015046.7
p.A2637V
c.7910C>T
8 papers
NM_015046.7
p.S2612G
c.7834A>G
1 paper
NM_015046.7
p.E2607_P2609del3
c.7819_7826del9
1 paper
NM_015046.7
p.E2607K
c.7819G>A
1 paper
NM_015046.7
p.S2648S
c.7944C>T
1 paper
NM_015046.7
p.T2650fs
c.7948_7949fs
1 paper
NM_015046.7
p.H2600P
c.7799A>C
1 paper
NM_015046.7
p.A2596V
c.7787C>T
1 paper
NM_015046.7
p.A2596G
c.7787C>G
1 paper
NM_015046.7
p.T2650_R2654delFs
c.7948_7961del14
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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."