Varaico: Literature-Extracted Genetic Variants

Gene:TWNK
Variant:p.E409K

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
2 papers
NM_021830.5
p.E409K
c.1225G>A
Surrounding Variants
1 paper
NM_021830.5
p.L410_T411ins0
c.1229_1231dupTGA
1 paper
NM_021830.5
p.T411M
c.1232C>T
5 papers
NM_021830.5
p.R406Q
c.1217G>A
1 paper
NM_021830.5
p.R406*
c.1216C>T
1 paper
NM_021830.5
p.V412L
c.1234G>C
1 paper
NM_021830.5
p.G404R
c.1210G>A
1 paper
NM_021830.5
p.G404R
c.1210G>C
1 paper
NM_021830.5
p.K403K
c.1209G>A
2 papers
NM_021830.5
p.R400L
c.1199G>T
4 papers
NM_021830.5
p.R400C
c.1198C>T
15 papers
NM_021830.5
p.N399S
c.1196A>G
2 papers
NM_021830.5
p.D397G
c.1190A>G
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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."