Varaico: Literature-Extracted Genetic Variants

Gene:TWNK
Variant:p.R160L

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.R160L
c.479G>T
Surrounding Variants
1 paper
NM_021830.5
p.N159I
c.476A>T
3 papers
NM_021830.5
p.N159Y
c.475A>T
1 paper
NM_021830.5
p.P163P
c.489T>C
1 paper
NM_021830.5
p.R156S
c.468G>C
1 paper
NM_021830.5
p.R156S
c.468G>T
1 paper
NM_021830.5
p.R156G
c.466A>G
1 paper
NM_021830.5
p.L167P
c.500T>C
1 paper
NM_021830.5
p.D169V
c.506A>T
1 paper
NM_021830.5
p.S151N
c.452G>A
1 paper
NM_021830.5
p.S151insFs
c.451_452insC
1 paper
NM_021830.5
p.Q170R
c.509A>G
1 paper
NM_021830.5
p.T178A
c.532A>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."