Varaico: Literature-Extracted Genetic Variants

Gene:DYRK1A
Variant:p.Q576*

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.Q576*
c.1726C>T
Surrounding Variants
1 paper
NM_001347721.2
p.E577Q
c.1729G>C
1 paper
NM_001347721.2
p.V575_T578del4
c.1723_1733del12
1 paper
NM_001347721.2
p.T578R
c.1733C>G
1 paper
NM_001396.5
p.T588P
c.1762A>C
1 paper
NM_001396.5
p.T588A
c.1762A>G
1 paper
NM_001396.5
p.T588delFs
c.1764delC
7 papers
NM_001396.5
p.T588N
c.1763C>A
4 papers
NM_001347721.2
p.T572_V575del4
c.1714_1724del12
1 paper
NM_001347721.2
p.E571G
c.1712A>G
1 paper
NM_001396.5
p.H590fs
c.1768_1769fs
1 paper
NM_001347721.2
p.T569T
c.1707T>C
1 paper
NM_001347721.2
p.T569A
c.1705A>G
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