Varaico: Literature-Extracted Genetic Variants

Gene:TWNK
Variant:p.R637R

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.R637R
c.1911G>A
Surrounding Variants
5 papers
NM_021830.5
p.R637W
c.1909C>T
1 paper
NM_021830.5
p.L638P
c.1913T>C
1 paper
NM_021830.5
p.L638L
c.1914C>A
1 paper
NM_021830.5
p.K635_A636del2
c.1903_1907del6
7 papers
NM_021830.5
p.S629F
c.1886C>T
1 paper
NM_021830.5
p.G646G
c.1938A>T
1 paper
NM_021830.5
p.F628del1
c.1882_1883delTTC
1 paper
NM_021830.5
p.N622D
c.1864A>G
2 papers
NM_021830.5
p.G655D
c.1964G>A
1 paper
NM_021830.5
p.K656Q
c.1966A>C
1 paper
NM_021830.5
p.K657_T661del5
c.1969_1982del15
2 papers
NM_021830.5
p.P618L
c.1853C>T
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."