Varaico: Literature-Extracted Genetic Variants

Gene:DYRK1A
Variant:p.R179fs

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_001396.5
p.R179fs
c.535_536fs
Surrounding Variants
1 paper
NM_001347721.2
p.R170C
c.508C>T
1 paper
NM_001347721.2
p.R170H
c.509G>A
2 papers
NM_001347721.2
p.V171M
c.511G>A
1 paper
NM_001347721.2
p.E172_Q173delFs
c.514_517del4
1 paper
NM_001347721.2
p.A167delFs
c.501delA
1 paper
NM_001396.5
p.K175N
c.525G>C
1 paper
NM_001396.5
p.K175N
c.525G>T
1 paper
NM_001396.5
p.K175fs
c.523_524fs
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.K175delFs
c.524delA
1 paper
NM_001347721.2
p.V165L
c.493G>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."