Varaico: Literature-Extracted Genetic Variants

Gene:DYRK1A
Variant:p.K280R

DYRK1A

291 papers

RefSeq Summary

This gene encodes a member of the Dual-specificity tyrosine phosphorylation-regulated kinase (DYRK) family. This member contains a nuclear targeting signal sequence, a protein kinase domain, a leucine...

Pfam Domains

Pkinaseaa 159–479UCSCProtein kinase domain

Gene Aliases

HGNC Name

dual specificity tyrosine phosphorylation regulated kinase 1A

HGNC Previous Symbols

DYRK1; MNBH

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001347721.2
p.K280R
c.839A>G
Surrounding Variants
1 paper
NM_001347721.2
p.K280_P281insGG
c.838_842ins6
1 paper
NM_001396.5
p.P290_E291del2
c.868_872del6
1 paper
NM_001396.5
p.P290R
c.869C>G
1 paper
NM_001347721.2
p.N283insFs
c.848dupA
3 papers
NM_001396.5
p.D287V
c.860A>T
NM_001347721.2
p.D278V
c.833A>T
2 papers
NM_001396.5
p.N292D
c.874A>G
NM_001347721.2
p.N283D
c.847A>G
1 paper
NM_001347721.2
p.N283fs
c.847_848fs
1 paper
NM_001347721.2
p.I284fs
c.850_851fs
1 paper
NM_001396.5
p.I293N
c.878T>A
1 paper
NM_001396.5
p.L294R
c.881T>G
1 paper
NM_001396.5
p.I284fs
c.850_851fs
4 papers
NM_001347721.2
p.L286F
c.856C>T
NM_101395.2
p.L295F
c.883C>T
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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."