Varaico: Literature-Extracted Genetic Variants

Gene:TWNK
Variant:p.P284L

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.P284L
c.851C>T
Surrounding Variants
1 paper
NM_021830.5
p.P284T
c.850C>A
2 papers
NM_021830.5
p.R285*
c.853C>T
3 papers
NM_021830.5
p.R285Q
c.854G>A
1 paper
NM_021830.5
p.T287M
c.860C>T
6 papers
NM_021830.5
p.P292T
c.874C>A
1 paper
NM_021830.5
p.T276M
c.827C>T
1 paper
NM_021830.5
p.A271T
c.811G>A
4 papers
NM_021830.5
p.R302W
c.904C>T
11 papers
NM_021830.5
p.R303W
c.907C>T
10 papers
NM_021830.5
p.R303Q
c.908G>A
9 papers
NM_021830.5
p.R265H
c.794G>A
10 papers
NM_021830.5
p.R265C
c.793C>T
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."