Varaico: Literature-Extracted Genetic Variants

Gene:TWNK
Variant:p.R265C

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
10 papers
NM_021830.5
p.R265C
c.793C>T
Surrounding Variants
9 papers
NM_021830.5
p.R265H
c.794G>A
1 paper
NM_021830.5
p.V260fs
c.778_779fs
1 paper
NM_021830.5
p.E259_V260insFs
c.777_778ins32
1 paper
NM_021830.5
p.A271T
c.811G>A
1 paper
NM_021830.5
p.D257A
c.770A>C
1 paper
NM_021830.5
p.R256L
c.767G>T
1 paper
NM_021830.5
p.R256insFs
c.766_767ins4
1 paper
NM_021830.5
p.T276M
c.827C>T
2 papers
NM_021830.5
p.I253M
c.759T>G
3 papers
NM_021830.5
p.P251L
c.752C>T
1 paper
NM_021830.5
p.L250L
c.750A>G
1 paper
NM_021830.5
p.L250S
c.749T>C
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