Varaico: Literature-Extracted Genetic Variants

Gene:DYRK1A
Variant:p.V639I

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.V639I
c.1915G>A
Surrounding Variants
1 paper
NM_001347721.2
p.M637I
c.1911G>A
1 paper
NM_001347721.2
p.M637V
c.1909A>G
1 paper
NM_001396.5
p.S660delFs
c.1978delT
1 paper
NM_001347721.2
p.P627S
c.1879C>T
1 paper
NM_001396.5
p.S660fs
c.1978_1979fs
1 paper
NM_001396.5
p.S660fs
c.1978_1979fs
2 papers
NM_001396.5
p.S661*
c.1982C>A
2 papers
NM_001396.5
p.S661*
c.1982C>G
1 paper
NM_001347721.2
p.N625S
c.1874A>G
1 paper
NM_001347721.2
p.P621P
c.1863A>G
1 paper
NM_001347721.2
p.T658_S659del2
c.1972_1976del6
1 paper
NM_001396.5
p.R629fs
c.1885_1886fs
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