Varaico: Literature-Extracted Genetic Variants

Gene:SETX
Variant:p.M386R

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.M386R
c.1157T>G
Surrounding Variants
7 papers
NM_015046.7
p.M386T
c.1157T>C
1 paper
NM_015046.7
p.E385*
c.1153G>T
4 papers
NM_015046.7
p.E385K
c.1153G>A
1 paper
NM_015046.7
p.E385_T388del4
c.1153_1163del12
64 papers
NM_015046.7
p.L389S
c.1166T>C
1 paper
NM_015046.7
p.M382I
c.1146G>T
1 paper
NM_015046.7
p.M382I
c.1146G>C
1 paper
NM_015046.7
p.M382I
c.1146G>A
1 paper
NM_015046.7
p.S391N
c.1172G>A
1 paper
NM_015046.7
p.C379Y
c.1136G>A
1 paper
NM_015046.7
p.Q394E
c.1180C>G
1 paper
NM_015046.7
p.Y378C
c.1133A>G
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