Varaico: Literature-Extracted Genetic Variants

Gene:DYRK1A
Variant:p.I294S

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.I294S
c.881T>G
Surrounding Variants
1 paper
NM_001347721.2
p.K295del1
c.883_885delAAG
2 papers
NM_001396.5
p.I305insFs
c.914dupT
NM_001347721.2
p.I296insFs
c.887dupT
2 papers
NM_001396.5
p.I305_D307del0
c.914_919del6
2 papers
NM_001396.5
p.I305R
c.914T>G
1 paper
NM_001347721.2
p.V297fs
c.889_890fs
1 paper
NM_001347721.2
p.R291P
c.872G>C
1 paper
NM_001347721.2
p.D298delFs
c.894delC
1 paper
NM_001347721.2
p.D298_S301delFs
c.894_903del10
1 paper
NM_001347721.2
p.K290_R291del2
c.868_872del6
1 paper
NM_001347721.2
p.G300D
c.899G>A
1 paper
NM_001396.5
p.N297_S301del5
c.889_902del15
2 papers
NM_001396.5
p.S311P
c.931T>C
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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."