Varaico: Literature-Extracted Genetic Variants

Gene:TWNK
Variant:p.L250L

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.L250L
c.750A>G
Surrounding Variants
1 paper
NM_021830.5
p.L250S
c.749T>C
3 papers
NM_021830.5
p.P251L
c.752C>T
7 papers
NM_021830.5
p.F248S
c.743T>C
2 papers
NM_021830.5
p.I253M
c.759T>G
1 paper
NM_021830.5
p.N246S
c.737A>G
1 paper
NM_021830.5
p.H245L
c.734A>T
1 paper
NM_021830.5
p.R256insFs
c.766_767ins4
1 paper
NM_021830.5
p.R256L
c.767G>T
1 paper
NM_021830.5
p.D257A
c.770A>C
1 paper
NM_021830.5
p.Y244fs
c.730_731fs
1 paper
NM_021830.5
p.E259_V260insFs
c.777_778ins32
1 paper
NM_021830.5
p.V260fs
c.778_779fs
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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."