Varaico: Literature-Extracted Genetic Variants

Gene:DYRK1A
Variant:p.K188R

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
11 papers
NM_001396.5
p.K188R
c.563A>G
NM_001347721.2
p.K179R
c.536A>G
Surrounding Variants
1 paper
NM_001396.5
p.K188I
c.563A>T
1 paper
NM_001347721.2
p.I180insFs
c.539dupT
1 paper
NM_001347721.2
p.I180L
c.538A>C
1 paper
NM_001396.5
p.I190_K191delFs
c.569_572del4
1 paper
NM_001347721.2
p.I178insFs
c.534dupT
1 paper
NM_001396.5
p.I190fs
c.568_569fs
1 paper
NM_001396.5
p.K191_N192delFs
c.572_575del4
1 paper
NM_001396.5
p.K191fs
c.571_572fs
1 paper
NM_001347721.2
p.W175delFs
c.524delG
1 paper
NM_001347721.2
p.E174*
c.520G>T
1 paper
NM_001347721.2
p.E174delins
c.520_521delinsTG
1 paper
NM_001396.5
p.A195T
c.583G>A
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