Varaico: Literature-Extracted Genetic Variants

Gene:DYRK1A
Variant:p.I48K

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
2 papers
NM_001347721.2
p.I48K
c.143T>A
Surrounding Variants
1 paper
NM_001347721.2
p.I48fs
c.142_143fs
1 paper
NM_001347721.2
p.I48insFs
c.143dupT
9 papers
NM_001347721.2
p.I48fs
c.142_143fs
2 papers
NM_001347721.2
p.S49fs
c.145_146fs
8 papers
NM_001347721.2
p.I48delFs
c.143_144delTA
1 paper
NM_001347721.2
p.N47delFs
c.141delC
1 paper
NM_001347721.2
p.N47D
c.139A>G
1 paper
NM_001347721.2
p.N47fs
c.139_140fs
1 paper
NM_001347721.2
p.P46P
c.138A>T
1 paper
NM_001347721.2
p.R43H
c.128G>A
1 paper
NM_001347721.2
p.V53A
c.158T>C
1 paper
NM_001347721.2
p.R43C
c.127C>T
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