Varaico: Literature-Extracted Genetic Variants

Gene:TWNK
Variant:p.R601L

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.R601L
c.1802G>T
Surrounding Variants
12 papers
NM_021830.5
p.R601Q
c.1802G>A
1 paper
NM_021830.5
p.R601W
c.1801C>T
1 paper
NM_021830.5
p.V605delFs
c.1814delT
1 paper
NM_021830.5
p.V605fs
c.1813_1814fs
1 paper
NM_021830.5
p.K607E
c.1819A>G
1 paper
NM_021830.5
p.R609delFs
c.1825delC
1 paper
NM_021830.5
p.R609fs
c.1825_1826fs
1 paper
NM_021830.5
p.V614I
c.1840G>A
12 papers
NM_021830.5
p.G615A
c.1844G>C
1 paper
NM_021830.5
p.L587L
c.1759C>T
19 papers
NM_021830.5
p.N585S
c.1754A>G
5 papers
NM_021830.5
p.D584E
c.1752C>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."