Varaico: Literature-Extracted Genetic Variants

Gene:DYRK1A
Variant:p.C312*

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.C312*
c.936T>A
Surrounding Variants
2 papers
NM_001396.5
p.Q313*
c.937C>T
NM_001347721.2
p.Q304*
c.910C>T
2 papers
NM_001347721.2
p.L305insFs
c.914dupT
9 papers
NM_001396.5
p.S311F
c.932C>T
1 paper
NM_001347721.2
p.L305_Q307del0
c.914_919del6
2 papers
NM_001396.5
p.S311P
c.931T>C
3 papers
NM_001396.5
p.G315insFs
c.945dupG
1 paper
NM_001347721.2
p.Q307*
c.919C>T
5 papers
NM_001396.5
p.Q316fs
c.946_947fs
1 paper
NM_001347721.2
p.G300D
c.899G>A
1 paper
NM_001347721.2
p.R308R
c.924G>A
1 paper
NM_001347721.2
p.D298delFs
c.894delC
1 paper
NM_001347721.2
p.D298_S301delFs
c.894_903del10
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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."