Varaico: Literature-Extracted Genetic Variants

Gene:SETX
Variant:p.I1690_L1691insFs

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
5 papers
NM_015046.7
p.I1690_L1691insFs
c.5070_5071insT
Surrounding Variants
1 paper
NM_015046.7
p.L1691fs
c.5071_5072fs
1 paper
NM_015046.7
p.L1692fs
c.5074_5075fs
1 paper
NM_015046.7
p.L1692delFs
c.5075delA
2 papers
NM_015046.7
p.Q1695*
c.5083C>T
1 paper
NM_015046.7
p.P1687A
c.5059C>G
1 paper
NM_015046.7
p.Q1695P
c.5084A>C
1 paper
NM_015046.7
p.S1685fs
c.5053_5054fs
3 papers
NM_015046.7
p.S1684C
c.5051C>G
2 papers
NM_015046.7
p.Y1681C
c.5042A>G
1 paper
NM_015046.7
p.V1674fs
c.5020_5021fs
1 paper
NM_015046.7
p.K1673delFs
c.5019delT
1 paper
NM_015046.7
p.G1671S
c.5011G>A
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