Varaico: Literature-Extracted Genetic Variants

Gene:DYRK1A
Variant:p.Q669H

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.Q669H
c.2007G>T
Surrounding Variants
1 paper
NM_001347721.2
p.Q669H
c.2007G>C
1 paper
NM_001347721.2
p.R674R
c.2022C>T
1 paper
NM_001347721.2
p.P675P
c.2025A>C
1 paper
NM_001347721.2
p.T658_S659del2
c.1972_1976del6
2 papers
NM_001396.5
p.S661*
c.1982C>A
2 papers
NM_001396.5
p.S661*
c.1982C>G
1 paper
NM_001396.5
p.S660fs
c.1978_1979fs
1 paper
NM_001396.5
p.S660fs
c.1978_1979fs
1 paper
NM_001347721.2
p.A688A
c.2064T>C
1 paper
NM_001396.5
p.S660delFs
c.1978delT
1 paper
NM_001347721.2
p.N692N
c.2076T>C
1 paper
NM_001396.5
p.L702_T703del2
c.2104_2108del6
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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."