Varaico: Literature-Extracted Genetic Variants

Gene:TWNK
Variant:p.R196*

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.R196*
c.586C>T
Surrounding Variants
1 paper
NM_021830.5
p.R202L
c.605G>T
1 paper
NM_021830.5
p.D188E
c.564C>A
1 paper
NM_021830.5
p.D188E
c.564C>G
1 paper
NM_021830.5
p.D187_D188insFs
c.561_562insA
1 paper
NM_021830.5
p.V205F
c.613G>T
3 papers
NM_021830.5
p.D187_D188ins0
c.561_563dupTGA
1 paper
NM_021830.5
p.F206L
c.616T>C
1 paper
NM_021830.5
p.F206V
c.616T>G
1 paper
NM_021830.5
p.V185_D187Fs
c.554_559delinsTGTGFs
1 paper
NM_021830.5
p.K184T
c.551A>C
1 paper
NM_021830.5
p.K184E
c.550A>G
1 paper
NM_021830.5
p.K184delFs
c.550delA
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."