Varaico: Literature-Extracted Genetic Variants

Gene:DYRK1A
Variant:p.I283insFs

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_001396.5
p.I283insFs
c.848dupT
Surrounding Variants
1 paper
NM_001396.5
p.I283insFs
c.849dupC
1 paper
NM_001396.5
p.S282fs
c.844_845fs
5 papers
NM_001396.5
p.S282fs
c.844_845fs
1 paper
NM_001396.5
p.I284fs
c.850_851fs
3 papers
NM_001396.5
p.S282insFs
c.844dupA
1 paper
NM_001347721.2
p.E271delFs
c.811_812delGA
3 papers
NM_001396.5
p.D287V
c.860A>T
NM_001347721.2
p.D278V
c.833A>T
1 paper
NM_001347721.2
p.K280_P281insGG
c.838_842ins6
1 paper
NM_001396.5
p.P290_E291del2
c.868_872del6
2 papers
NM_001396.5
p.A277P
c.829G>C
NM_001347721.2
p.A268P
c.802G>C
1 paper
NM_001347721.2
p.K280R
c.839A>G
1 paper
NM_001347721.2
p.L267insFs
c.800dupT
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."