Varaico: Literature-Extracted Genetic Variants

Gene:DYRK1A
Variant:p.S493delFs

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.S493delFs
c.1477delT
Surrounding Variants
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
1 paper
NM_001347721.2
p.A489_S495del7
c.1465_1484del21
6 papers
NM_001347721.2
p.G497delFs
c.1491delC
1 paper
NM_001347721.2
p.P488_E491del4
c.1462_1472del12
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_001396.5
p.S509delFs
c.1527delC
1 paper
NM_001396.5
p.S510G
c.1528A>G
1 paper
NM_001396.5
p.S510fs
c.1528_1529fs
1 paper
NM_001347721.2
p.T502K
c.1505C>A
1 paper
NM_001347721.2
p.S504_G507delFs
c.1510_1519del10
1 paper
NM_001347721.2
p.G507delFs
c.1519delG
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