Varaico: Literature-Extracted Genetic Variants

Gene:DYRK1A
Variant:p.F238fs

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_001396.5
p.F238fs
c.712_713fs
Surrounding Variants
1 paper
NM_001396.5
p.V237_L241delins
c.710_722delinsA
1 paper
NM_001396.5
p.E239*
c.715G>T
1 paper
NM_001396.5
p.F238delFs
c.714delT
1 paper
NM_001396.5
p.C235fs
c.703_704fs
1 paper
NM_001396.5
p.C235insFs
c.703dupT
1 paper
NM_001396.5
p.L241P
c.722T>C
1 paper
NM_001396.5
p.L234_C235delFs
c.702_703delCT
1 paper
NM_001347721.2
p.N235insFs
c.703dupA
2 papers
NM_001347721.2
p.N235_L236Fs
c.705_707delinsACFs
1 paper
NM_001396.5
p.R231Q
c.692G>A
8 papers
NM_001396.5
p.R231*
c.691C>T
NM_001347721.2
p.R222*
c.664C>T
4 papers
NM_101395.2
p.L245R
c.734T>G
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