Varaico: Literature-Extracted Genetic Variants

Gene:TWNK
Variant:p.W363R

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.W363R
c.1087T>C
Surrounding Variants
1 paper
NM_021830.5
p.W363R
c.1087T>A
5 papers
NM_021830.5
p.W363L
c.1088G>T
6 papers
NM_021830.5
p.A362P
c.1084G>C
1 paper
NM_021830.5
p.K365Q
c.1093A>C
1 paper
NM_021830.5
p.L360delins
c.1078_1079delinsGG
1 paper
NM_021830.5
p.A359A
c.1077C>G
21 papers
NM_021830.5
p.A359T
c.1075G>A
1 paper
NM_021830.5
p.T358T
c.1074C>G
12 papers
NM_021830.5
p.I367T
c.1100T>C
10 papers
NM_021830.5
p.V368I
c.1102G>A
12 papers
NM_021830.5
p.R357P
c.1070G>C
18 papers
NM_021830.5
p.S369P
c.1105T>C
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."