Varaico: Literature-Extracted Genetic Variants

Gene:DYRK1A
Variant:p.H598H

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.H598H
c.1794T>C
Surrounding Variants
1 paper
NM_001396.5
p.H615_H616insT
c.1843_1847ins3
1 paper
NM_001347721.2
p.H590insFs
c.1770dupT
1 paper
NM_001347721.2
p.H590R
c.1769A>G
3 papers
NM_001347721.2
p.A588E
c.1763C>A
1 paper
NM_001347721.2
p.H609Y
c.1825C>T
1 paper
NM_001347721.2
p.H609_G611del0
c.1827_1832del6
1 paper
NM_001347721.2
p.Q613_L615ins1
c.1839_1844dup6
1 paper
NM_001347721.2
p.Q613H
c.1839A>C
1 paper
NM_001347721.2
p.Q613H
c.1839A>T
1 paper
NM_001347721.2
p.A614_L615ins0
c.1842_1844dupCTT
1 paper
NM_001347721.2
p.L615_G616insT
c.1843_1847ins3
1 paper
NM_001396.5
p.H590fs
c.1768_1769fs
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