Varaico: Literature-Extracted Genetic Variants

Gene:TWNK
Variant:p.E86delFs

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.E86delFs
c.257_258delAG
Surrounding Variants
3 papers
NM_021830.5
p.E86V
c.257A>T
6 papers
NM_021830.5
p.P83S
c.247C>T
1 paper
NM_021830.5
p.S88_Q89del1
c.263_265delCAC
1 paper
NM_021830.5
p.K91del1
c.271_273delAAA
1 paper
NM_021830.5
p.L78_L81del0
c.234_242del9
1 paper
NM_021830.5
p.C77Y
c.230G>A
1 paper
NM_021830.5
p.S76N
c.227G>A
2 papers
NM_021830.5
p.T98I
c.293C>T
2 papers
NM_021830.5
p.I69F
c.205A>T
1 paper
NM_021830.5
p.G68G
c.204G>A
1 paper
NM_021830.5
p.G68R
c.202G>A
1 paper
NM_021830.5
p.F103L
c.309C>A
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