Varaico: Literature-Extracted Genetic Variants

Gene:TWNK
Variant:p.P618L

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.P618L
c.1853C>T
Surrounding Variants
1 paper
NM_021830.5
p.P618S
c.1852C>T
12 papers
NM_021830.5
p.G615A
c.1844G>C
1 paper
NM_021830.5
p.N622D
c.1864A>G
1 paper
NM_021830.5
p.V614I
c.1840G>A
1 paper
NM_021830.5
p.F628del1
c.1882_1883delTTC
1 paper
NM_021830.5
p.R609fs
c.1825_1826fs
1 paper
NM_021830.5
p.R609delFs
c.1825delC
7 papers
NM_021830.5
p.S629F
c.1886C>T
1 paper
NM_021830.5
p.K607E
c.1819A>G
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.K635_A636del2
c.1903_1907del6
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