Varaico: Literature-Extracted Genetic Variants

Gene:TWNK
Variant:p.R6R

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.R6R
c.16C>A
Surrounding Variants
1 paper
NM_021830.5
p.R6P
c.17G>C
1 paper
NM_021830.5
p.L4P
c.11T>C
1 paper
NM_021830.5
p.G8insFs
c.22_23insC
1 paper
NM_021830.5
p.V3_L4insFs
c.9_10insT
1 paper
NM_021830.5
p.P10H
c.29C>A
3 papers
NM_021830.5
p.M1I
c.3G>A
2 papers
NM_021830.5
p.M1I
c.3G>C
2 papers
NM_021830.5
p.M1I
c.3G>T
2 papers
NM_021830.5
p.M1T
c.2T>C
1 paper
NM_021830.5
p.M1insFs
c.2_3insT
1 paper
NM_021830.5
p.M1V
c.1A>G
1 paper
NM_021830.5
p.R12C
c.34C>T
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