Varaico: Literature-Extracted Genetic Variants

Gene:TWNK
Variant:p.A322A

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
1 paper
NM_021830.5
p.A322A
c.966A>G
Surrounding Variants
2 papers
NM_021830.5
p.R323*
c.967C>T
11 papers
NM_021830.5
p.R323Q
c.968G>A
2 papers
NM_021830.5
p.F321L
c.961T>C
1 paper
NM_021830.5
p.F321V
c.961T>G
1 paper
NM_021830.5
p.F321delFs
c.961delT
1 paper
NM_021830.5
p.K319N
c.957G>C
1 paper
NM_021830.5
p.K319N
c.957G>T
10 papers
NM_021830.5
p.K319T
c.956A>C
1 paper
NM_021830.5
p.K319R
c.956A>G
1 paper
NM_021830.5
p.K319Q
c.955A>C
19 papers
NM_021830.5
p.K319E
c.955A>G
28 papers
NM_021830.5
p.A318T
c.952G>A
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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."