Varaico: Literature-Extracted Genetic Variants

Gene:TWNK
Variant:p.R334Q

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
20 papers
NM_021830.5
p.R334Q
c.1001G>A
Surrounding Variants
5 papers
NM_021830.5
p.R334P
c.1001G>C
1 paper
NM_021830.5
p.R334L
c.1001G>T
2 papers
NM_021830.5
p.R334*
c.1000C>T
3 papers
NM_021830.5
p.P335T
c.1003C>A
12 papers
NM_021830.5
p.P335L
c.1004C>T
1 paper
NM_021830.5
p.V333M
c.997G>A
2 papers
NM_021830.5
p.R329*
c.985C>T
1 paper
NM_021830.5
p.A345T
c.1033G>A
11 papers
NM_021830.5
p.R323Q
c.968G>A
2 papers
NM_021830.5
p.R323*
c.967C>T
1 paper
NM_021830.5
p.A322A
c.966A>G
2 papers
NM_021830.5
p.F321L
c.961T>C
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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."