Varaico: Literature-Extracted Genetic Variants

Gene:SETX
Variant:p.F2175S

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.F2175S
c.6524T>C
Surrounding Variants
2 papers
NM_015046.7
p.G2172D
c.6515G>A
5 papers
NM_015046.7
p.I2179S
c.6536T>G
3 papers
NM_015046.7
p.G2169G
c.6507G>A
1 paper
NM_015046.7
p.D2181A
c.6542A>C
1 paper
NM_015046.7
p.R2168H
c.6503G>A
1 paper
NM_015046.7
p.E2182A
c.6545A>C
1 paper
NM_015046.7
p.E2182_A2183Splc
c.6546+2T>C
4 papers
NM_015046.7
p.E2182_A2183Splc
c.6546+5G>T
3 papers
NM_015046.7
p.L2163V
c.6487C>G
1 paper
NM_015046.7
p.L2162delFs
c.6486delT
1 paper
NM_015046.7
p.L2161F
c.6483A>T
1 paper
NM_015046.7
p.L2161F
c.6483A>C
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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."