Varaico: Literature-Extracted Genetic Variants

Gene:DYRK1A
Variant:p.G486D

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
2 papers
NM_001396.5
p.G486D
c.1457G>A
Surrounding Variants
1 paper
NM_001396.5
p.F478fs
c.1432_1433fs
4 papers
NM_001396.5
p.F478delFs
c.1433delT
NM_001347721.2
p.F469delFs
c.1405delT
8 papers
NM_001396.5
p.P497delFs
c.1491delC
NM_101395.2
p.P488delFs
c.1464delC
NM_001347721.2
p.S487delFs
c.1461delC
1 paper
NM_001347721.2
p.H467insFs
c.1400dupA
1 paper
NM_001347721.2
p.H467D
c.1399C>G
3 papers
NM_001347721.2
p.H467Y
c.1399C>T
1 paper
NM_001347721.2
p.P488_E491del4
c.1462_1472del12
1 paper
NM_001396.5
p.Q475*
c.1423C>T
1 paper
NM_001347721.2
p.A489_S495del7
c.1465_1484del21
2 papers
NM_001347721.2
p.A489fs
c.1465_1466fs
NM_001396.5
p.A498fs
c.1492_1493fs
7 papers
NM_001396.5
p.A498fs
c.1492_1493fs
NM_101395.2
p.A489fs
c.1465_1466fs
2 papers
NM_001347721.2
p.Y462C
c.1385A>G
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