Varaico: Literature-Extracted Genetic Variants

Gene:TWNK
Variant:p.P396S

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
4 papers
NM_021830.5
p.P396S
c.1186C>T
Surrounding Variants
5 papers
NM_021830.5
p.F395L
c.1185T>A
5 papers
NM_021830.5
p.F395L
c.1185T>G
6 papers
NM_021830.5
p.F395L
c.1183T>C
2 papers
NM_021830.5
p.D397G
c.1190A>G
6 papers
NM_021830.5
p.R394H
c.1181G>A
15 papers
NM_021830.5
p.N399S
c.1196A>G
4 papers
NM_021830.5
p.R400C
c.1198C>T
2 papers
NM_021830.5
p.R400L
c.1199G>T
26 papers
NM_021830.5
p.R391H
c.1172G>A
4 papers
NM_021830.5
p.A388V
c.1163C>T
1 paper
NM_021830.5
p.K403K
c.1209G>A
1 paper
NM_021830.5
p.G404R
c.1210G>A
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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."