Varaico: Literature-Extracted Genetic Variants

Gene:DYRK1A
Variant:p.Y462C

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.Y462C
c.1385A>G
Surrounding Variants
1 paper
NM_001396.5
p.Q469fs
c.1405_1406fs
3 papers
NM_101395.2
p.I468fs
c.1402_1403fs
1 paper
NM_001396.5
p.R467_I468insFs
c.1401_1402insG
1 paper
NM_101395.2
p.R467Fs
c.1401delinsGGFs
1 paper
NM_001396.5
p.Q475*
c.1423C>T
4 papers
NM_001396.5
p.R467Q
c.1400G>A
NM_001347721.2
p.R458Q
c.1373G>A
1 paper
NM_001347721.2
p.R458L
c.1373G>T
1 paper
NM_001396.5
p.R467insFs
c.1400dupG
8 papers
NM_001396.5
p.R467*
c.1399C>T
NM_101395.2
p.R458*
c.1372C>T
1 paper
NM_001347721.2
p.H467insFs
c.1400dupA
1 paper
NM_001347721.2
p.H467D
c.1399C>G
3 papers
NM_001347721.2
p.H467Y
c.1399C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."