Varaico: Literature-Extracted Genetic Variants

Gene:TWNK
Variant:p.R65W

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.R65W
c.193C>T
Surrounding Variants
1 paper
NM_021830.5
p.R65L
c.194G>T
1 paper
NM_021830.5
p.L64delFs
c.190delT
1 paper
NM_021830.5
p.G68R
c.202G>A
1 paper
NM_021830.5
p.G68G
c.204G>A
2 papers
NM_021830.5
p.I69F
c.205A>T
1 paper
NM_021830.5
p.E59D
c.177A>T
1 paper
NM_021830.5
p.A57T
c.169G>A
1 paper
NM_021830.5
p.P54S
c.160C>T
1 paper
NM_021830.5
p.S76N
c.227G>A
1 paper
NM_021830.5
p.C77Y
c.230G>A
1 paper
NM_021830.5
p.L78_L81del0
c.234_242del9
1 paper
NM_021830.5
p.L48S
c.143T>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."