Varaico: Literature-Extracted Genetic Variants

Gene:TWNK
Variant:p.T496T

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.T496T
c.1488T>C
Surrounding Variants
1 paper
NM_021830.5
p.V497A
c.1490T>C
6 papers
NM_021830.5
p.R495Splc
c.1485-1G>A
2 papers
NM_021830.5
p.D499Y
c.1495G>T
1 paper
NM_021830.5
p.M501T
c.1502T>C
1 paper
NM_021830.5
p.Q502*
c.1504C>T
2 papers
NM_021830.5
p.A504T
c.1510G>A
2 papers
NM_021830.5
p.A504V
c.1511C>T
1 paper
NM_021830.5
p.V505I
c.1513G>A
17 papers
NM_021830.5
p.V507I
c.1519G>A
47 papers
NM_021830.5
p.Y508C
c.1523A>G
1 paper
NM_021830.5
p.D509G
c.1526A>G
1 paper
NM_021830.5
p.I514I
c.1542C>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."