Varaico: Literature-Extracted Genetic Variants

Gene:TWNK
Variant:p.R463W

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
4 papers
NM_021830.5
p.R463W
c.1387C>T
Surrounding Variants
7 papers
NM_021830.5
p.R463Q
c.1388G>A
1 paper
NM_021830.5
p.G462R
c.1384G>A
1 paper
NM_021830.5
p.G462R
c.1384G>C
2 papers
NM_021830.5
p.E461K
c.1381G>A
3 papers
NM_021830.5
p.A460G
c.1379C>G
5 papers
NM_021830.5
p.A460P
c.1378G>C
5 papers
NM_021830.5
p.Q458H
c.1374G>C
5 papers
NM_021830.5
p.Q458H
c.1374G>T
16 papers
NM_021830.5
p.T457I
c.1370C>T
8 papers
NM_021830.5
p.L456V
c.1366C>G
6 papers
NM_021830.5
p.M455T
c.1364T>C
3 papers
NM_021830.5
p.M455V
c.1363A>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."