Varaico: Literature-Extracted Genetic Variants

Gene:DYRK1A
Variant:p.S57P

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.S57P
c.169T>C
Surrounding Variants
2 papers
NM_001347721.2
p.S57A
c.169T>G
2 papers
NM_001347721.2
p.Y58*
c.174T>A
1 paper
NM_001347721.2
p.S59A
c.175T>G
1 paper
NM_001347721.2
p.A55_L56del2
c.163_167del6
1 paper
NM_001347721.2
p.S54A
c.160T>G
1 paper
NM_001347721.2
p.V53A
c.158T>C
1 paper
NM_001347721.2
p.Q61K
c.181C>A
2 papers
NM_001347721.2
p.Q61H
c.183G>C
2 papers
NM_001347721.2
p.Q61H
c.183G>T
1 paper
NM_001347721.2
p.I62delFs
c.185delT
1 paper
NM_001347721.2
p.Q64*
c.190C>T
2 papers
NM_001347721.2
p.S49fs
c.145_146fs
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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."