Varaico: Literature-Extracted Genetic Variants

Gene:TWNK
Variant:p.T115I

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.T115I
c.344C>T
Surrounding Variants
1 paper
NM_021830.5
p.M114R
c.341T>G
2 papers
NM_021830.5
p.L112fs
c.334_335fs
2 papers
NM_021830.5
p.F111delFs
c.333delT
1 paper
NM_021830.5
p.T108I
c.323C>T
1 paper
NM_021830.5
p.E123D
c.369A>T
1 paper
NM_021830.5
p.D124delFs
c.370delG
1 paper
NM_021830.5
p.D124N
c.370G>A
2 papers
NM_021830.5
p.D124H
c.370G>C
1 paper
NM_021830.5
p.K106E
c.316A>G
1 paper
NM_021830.5
p.I104F
c.310A>T
1 paper
NM_021830.5
p.F103L
c.309C>A
2 papers
NM_021830.5
p.T98I
c.293C>T
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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."