Varaico: Literature-Extracted Genetic Variants

Gene:DYRK1A
Variant:p.L446L

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.L446L
c.1338C>T
Surrounding Variants
1 paper
NM_001396.5
p.R458M
c.1373G>T
1 paper
NM_001347721.2
p.M450insFs
c.1350dupG
2 papers
NM_001396.5
p.K451fs
c.1351_1352fs
NM_001347721.2
p.K442fs
c.1324_1325fs
1 paper
NM_001347721.2
p.D452_Y463del12
c.1354_1388del36
1 paper
NM_001347721.2
p.L441S
c.1322T>C
2 papers
NM_001396.5
p.L450insFs
c.1350dupG
NM_001347721.2
p.L441insFs
c.1323dupG
1 paper
NM_001396.5
p.Y462H
c.1384T>C
3 papers
NM_001396.5
p.Y462C
c.1385A>G
NM_001347721.2
p.Y453C
c.1358A>G
1 paper
NM_001347721.2
p.D439_L441delFs
c.1317_1321del5
1 paper
NM_001347721.2
p.P455T
c.1363C>A
1 paper
NM_001396.5
p.T445fs
c.1333_1334fs
1 paper
NM_001396.5
p.T445insFs
c.1333dupA
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