Varaico: Literature-Extracted Genetic Variants

Gene:DYRK1A
Variant:p.K11fs

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
3 papers
NM_001347721.2
p.K11fs
c.31_32fs
Surrounding Variants
3 papers
NM_001347721.2
p.K11delFs
c.33delA
1 paper
NM_001347721.2
p.P12_S14delFs
c.34_41del8
1 paper
NM_001347721.2
p.P12delins
c.35_36delinsTT
1 paper
NM_001347721.2
p.P12delins
c.35_36delinsTA
1 paper
NM_001347721.2
p.S14_R16delFs
c.40_47del8
1 paper
NM_001347721.2
p.S14F
c.41C>T
1 paper
NM_001347721.2
p.T7I
c.20C>T
1 paper
NM_001347721.2
p.V15F
c.43G>T
1 paper
NM_001347721.2
p.V15V
c.45T>A
1 paper
NM_001347721.2
p.E6Q
c.16G>C
1 paper
NM_001347721.2
p.R16Q
c.47G>A
1 paper
NM_001347721.2
p.G5_S8ins1
c.15_23dup9
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