Varaico: Literature-Extracted Genetic Variants

Gene:DYRK1A
Variant:p.E208fs

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
8 papers
NM_001396.5
p.E208fs
c.622_623fs
Surrounding Variants
2 papers
NM_001396.5
p.E208fs
c.622_623fs
NM_001347721.2
p.E199fs
c.595_596fs
6 papers
NM_001396.5
p.L207_E208Fs
c.621_624delinsGAAFs
NM_001347721.2
p.L198_E199Fs
c.594_597delinsGAAFs
4 papers
NM_001396.5
p.L207P
c.620T>C
NM_001347721.2
p.L198P
c.593T>C
1 paper
NM_001347721.2
p.L198_Y211ins4
c.594_632dup39
1 paper
NM_001396.5
p.R205_L206insFs
c.615_616insT
13 papers
NM_001396.5
p.R205*
c.613C>T
NM_001347721.2
p.R196*
c.586C>T
1 paper
NM_001347721.2
p.R196_L200del5
c.586_599del15
1 paper
NM_001396.5
p.K212*
c.634A>T
1 paper
NM_001347721.2
p.V195M
c.583G>A
1 paper
NM_001396.5
p.V204delFs
c.611delT
1 paper
NM_001347721.2
p.H204delFs
c.611delA
1 paper
NM_001347721.2
p.D205_T206insFs
c.615_616insT
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