Varaico: Literature-Extracted Genetic Variants

Gene:TWNK
Variant:p.L440P

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.L440P
c.1319T>C
Surrounding Variants
16 papers
NM_021830.5
p.W441G
c.1321T>G
1 paper
NM_021830.5
p.T439S
c.1315A>T
2 papers
NM_021830.5
p.W441C
c.1323G>C
2 papers
NM_021830.5
p.W441C
c.1323G>T
1 paper
NM_021830.5
p.V437fs
c.1309_1310fs
4 papers
NM_021830.5
p.G436R
c.1306G>A
4 papers
NM_021830.5
p.G436R
c.1306G>C
1 paper
NM_021830.5
p.S434S
c.1302C>G
6 papers
NM_021830.5
p.N448D
c.1342A>G
1 paper
NM_021830.5
p.Y428F
c.1283A>T
12 papers
NM_021830.5
p.R453Q
c.1358G>A
1 paper
NM_021830.5
p.R453P
c.1358G>C
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