Varaico: Literature-Extracted Genetic Variants

Gene:TWNK
Variant:p.L381P

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
17 papers
NM_021830.5
p.L381P
c.1142T>C
Surrounding Variants
1 paper
NM_021830.5
p.L381R
c.1142T>G
1 paper
NM_021830.5
p.E380G
c.1139A>G
4 papers
NM_021830.5
p.L378P
c.1133T>C
4 papers
NM_021830.5
p.A388V
c.1163C>T
28 papers
NM_021830.5
p.R374Q
c.1121G>A
6 papers
NM_021830.5
p.R374W
c.1120C>T
26 papers
NM_021830.5
p.R391H
c.1172G>A
1 paper
NM_021830.5
p.R371Q
c.1112G>A
1 paper
NM_021830.5
p.R371W
c.1111C>T
7 papers
NM_021830.5
p.F370L
c.1110C>A
7 papers
NM_021830.5
p.F370L
c.1110C>G
1 paper
NM_021830.5
p.F370Y
c.1109T>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."