Varaico: Literature-Extracted Genetic Variants

Gene:DYRK1A
Variant:p.E174*

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.E174*
c.520G>T
Surrounding Variants
1 paper
NM_001347721.2
p.E174delins
c.520_521delinsTG
1 paper
NM_001347721.2
p.W175delFs
c.524delG
1 paper
NM_001347721.2
p.E172_Q173delFs
c.514_517del4
2 papers
NM_001347721.2
p.V171M
c.511G>A
1 paper
NM_001347721.2
p.R170H
c.509G>A
1 paper
NM_001347721.2
p.I178insFs
c.534dupT
1 paper
NM_001347721.2
p.R170C
c.508C>T
1 paper
NM_001396.5
p.R179fs
c.535_536fs
11 papers
NM_001396.5
p.K188R
c.563A>G
NM_001347721.2
p.K179R
c.536A>G
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
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