Varaico: Literature-Extracted Genetic Variants

Gene:DYRK1A
Variant:p.V420V

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.V420V
c.1260G>C
Surrounding Variants
1 paper
NM_001347721.2
p.G419A
c.1256G>C
1 paper
NM_001347721.2
p.N416delFs
c.1248delC
1 paper
NM_001396.5
p.P434fs
c.1300_1301fs
2 papers
NM_001396.5
p.H424fs
c.1270_1271fs
NM_001347721.2
p.H415fs
c.1243_1244fs
2 papers
NM_001396.5
p.H424delFs
c.1270delC
NM_001347721.2
p.H415delFs
c.1243delC
11 papers
NM_001396.5
p.R437*
c.1309C>T
NM_001347721.2
p.R428*
c.1282C>T
1 paper
NM_001347721.2
p.K413fs
c.1237_1238fs
1 paper
NM_001347721.2
p.R412delFs
c.1236delT
2 papers
NM_001347721.2
p.R429H
c.1286G>A
1 paper
NM_001396.5
p.A439delFs
c.1316delC
1 paper
NM_001347721.2
p.T411insFs
c.1232dupC
1 paper
NM_001396.5
p.A439Fs
c.1316_1317delinsTCATACFs
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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."