Varaico: Literature-Extracted Genetic Variants

Gene:TWNK
Variant:p.S664insFs

TWNK

433 papers

RefSeq Summary

This gene encodes a hexameric DNA helicase which unwinds short stretches of double-stranded DNA in the 5' to 3' direction and, along with mitochondrial single-stranded DNA binding protein and mtDNA po...

Pfam Domains

AAA_25aa 2–110UCSCAAA domain

Gene Aliases

HGNC Name

twinkle mtDNA helicase

HGNC Previous Symbols

IOSCA; C10orf2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_021830.5
p.S664insFs
c.1992dupT
Surrounding Variants
1 paper
NM_021830.5
p.S664_E665delFs
c.1992_1993delTG
1 paper
NM_021830.5
p.E665*
c.1993G>T
1 paper
NM_021830.5
p.E665fs
c.1993_1994fs
1 paper
NM_021830.5
p.A659T
c.1975G>A
1 paper
NM_021830.5
p.Q670H
c.2010G>C
1 paper
NM_021830.5
p.Q670H
c.2010G>T
1 paper
NM_021830.5
p.K657_T661del5
c.1969_1982del15
1 paper
NM_021830.5
p.K656Q
c.1966A>C
2 papers
NM_021830.5
p.G655D
c.1964G>A
1 paper
NM_021830.5
p.P674S
c.2020C>T
1 paper
NM_021830.5
p.G646G
c.1938A>T
3 papers
NM_021830.5
p.R682H
c.2045G>A
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