Varaico: Literature-Extracted Genetic Variants

Gene:DYRK1A
Variant:p.L240P

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_001347721.2
p.L240P
c.719T>C
Surrounding Variants
1 paper
NM_001347721.2
p.Y237_R241delins
c.710_722delinsA
4 papers
NM_101395.2
p.L245R
c.734T>G
2 papers
NM_001347721.2
p.N235_L236Fs
c.705_707delinsACFs
6 papers
NM_001347721.2
p.F245C
c.734T>G
1 paper
NM_001347721.2
p.F245F
c.735C>T
1 paper
NM_001347721.2
p.N235insFs
c.703dupA
13 papers
NM_001396.5
p.R255*
c.763C>T
NM_101395.2
p.R246*
c.736C>T
1 paper
NM_001396.5
p.R255Q
c.764G>A
1 paper
NM_001396.5
p.L241P
c.722T>C
1 paper
NM_001396.5
p.L259F
c.777G>C
1 paper
NM_001396.5
p.E239*
c.715G>T
1 paper
NM_001396.5
p.L259F
c.777G>T
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