Varaico: Literature-Extracted Genetic Variants

Gene:TWNK

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
1–12 of 327 variants
47 papers
NM_021830.5
p.Y508C
c.1523A>G
28 papers
NM_021830.5
p.A318T
c.952G>A
28 papers
NM_021830.5
p.R374Q
c.1121G>A
26 papers
NM_021830.5
p.R391H
c.1172G>A
21 papers
NM_021830.5
p.A359T
c.1075G>A
20 papers
NM_021830.5
p.R334Q
c.1001G>A
19 papers
NM_021830.5
p.K319E
c.955A>G
19 papers
NM_021830.5
p.N585S
c.1754A>G
18 papers
NM_021830.5
p.S369P
c.1105T>C
17 papers
NM_021830.5
p.L381P
c.1142T>C
17 papers
NM_021830.5
p.V507I
c.1519G>A
16 papers
NM_021830.5
p.W441G
c.1321T>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."