Varaico: Literature-Extracted Genetic Variants

Gene:TWNK
Variant:p.E479K

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
8 papers
NM_021830.5
p.E479K
c.1435G>A
Surrounding Variants
4 papers
NM_021830.5
p.F478C
c.1433T>G
3 papers
NM_021830.5
p.F478I
c.1432T>A
4 papers
NM_021830.5
p.A475D
c.1424C>A
1 paper
NM_021830.5
p.A475G
c.1424C>G
1 paper
NM_021830.5
p.A475V
c.1424C>T
5 papers
NM_021830.5
p.A475T
c.1423G>A
14 papers
NM_021830.5
p.A475P
c.1423G>C
14 papers
NM_021830.5
p.W474C
c.1422G>C
14 papers
NM_021830.5
p.W474C
c.1422G>T
2 papers
NM_021830.5
p.L483P
c.1448T>C
4 papers
NM_021830.5
p.W474S
c.1421G>C
8 papers
NM_021830.5
p.F485L
c.1453T>C
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