Varaico: Literature-Extracted Genetic Variants

Gene:TLK1
Variant:p.Q552H

TLK1

61 papers

RefSeq Summary

The protein encoded by this gene is a serine/threonine kinase that may be involved in the regulation of chromatin assembly. The encoded protein is only active when it is phosphorylated, and this phosp...

Pfam Domains

Pkinaseaa 456–734UCSCProtein kinase domain

Gene Aliases

HGNC Name

tousled like kinase 1

HGNC Alias Symbols

KIAA0137; PKU-BETA

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_012290.5
p.Q552H
c.1656A>T
Surrounding Variants
1 paper
NM_012290.5
p.Q552H
c.1656A>C
3 papers
NM_012290.5
p.M566T
c.1697T>C
1 paper
NM_012290.5
p.A505S
c.1513G>T
4 papers
NM_012290.5
p.A599G
c.1796C>G
3 papers
NM_012290.5
p.D607A
c.1820A>C
1 paper
NM_012290.5
p.M614K
c.1841T>A
1 paper
NM_012290.5
p.E496G
c.1487A>G
1 paper
NM_012290.5
p.G630E
c.1889G>A
1 paper
NM_012290.5
p.N490S
c.1469A>G
1 paper
NM_012290.5
p.A483S
c.1447G>T
2 papers
NM_012290.5
p.Q479E
c.1435C>G
2 papers
NM_012290.5
p.V470A
c.1409T>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."