Varaico: Literature-Extracted Genetic Variants

Gene:TWNK
Variant:p.R25G

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
3 papers
NM_021830.5
p.R25G
c.73A>G
Surrounding Variants
1 paper
NM_021830.5
p.R24delins
c.70delinsCCAG
1 paper
NM_021830.5
p.G23D
c.68G>A
1 paper
NM_021830.5
p.M22_G23insC
c.64_68ins3
14 papers
NM_021830.5
p.R29*
c.85C>T
1 paper
NM_021830.5
p.W21R
c.61T>C
1 paper
NM_021830.5
p.R18R
c.54T>C
1 paper
NM_021830.5
p.R18C
c.52C>T
2 papers
NM_021830.5
p.L15F
c.45A>C
2 papers
NM_021830.5
p.L15F
c.45A>T
1 paper
NM_021830.5
p.R12C
c.34C>T
1 paper
NM_021830.5
p.R39H
c.116G>A
1 paper
NM_021830.5
p.P10H
c.29C>A
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