Varaico: Literature-Extracted Genetic Variants

Gene:TWNK
Variant:p.L48S

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.L48S
c.143T>C
Surrounding Variants
1 paper
NM_021830.5
p.A47T
c.139G>A
1 paper
NM_021830.5
p.Q46L
c.137A>T
1 paper
NM_021830.5
p.L45P
c.134T>C
1 paper
NM_021830.5
p.E43E
c.129G>A
1 paper
NM_021830.5
p.P54S
c.160C>T
1 paper
NM_021830.5
p.R41W
c.121A>T
1 paper
NM_021830.5
p.R41delFs
c.121delA
1 paper
NM_021830.5
p.A57T
c.169G>A
1 paper
NM_021830.5
p.R39H
c.116G>A
1 paper
NM_021830.5
p.E59D
c.177A>T
1 paper
NM_021830.5
p.L64delFs
c.190delT
2 papers
NM_021830.5
p.R65W
c.193C>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."