Varaico: Literature-Extracted Genetic Variants

Gene:DYRK1A
Variant:p.S97fs

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
7 papers
NM_001396.5
p.S97fs
c.289_290fs
Surrounding Variants
1 paper
NM_001396.5
p.S97fs
c.289_290fs
1 paper
NM_001347721.2
p.S88delFs
c.263delC
5 papers
NM_001396.5
p.S97delFs
c.290_291delCT
1 paper
NM_001396.5
p.D99_I101delFs
c.297_301del5
1 paper
NM_001347721.2
p.K86R
c.257A>G
1 paper
NM_001347721.2
p.L91delFs
c.272delT
2 papers
NM_001396.5
p.L100fs
c.298_299fs
NM_001347721.2
p.L91fs
c.271_272fs
2 papers
NM_001396.5
p.L100*
c.299T>A
2 papers
NM_001396.5
p.I101delFs
c.302delT
NM_001347721.2
p.I92delFs
c.275delT
1 paper
NM_001347721.2
p.I92fs
c.274_275fs
1 paper
NM_001347721.2
p.P83S
c.247C>T
1 paper
NM_001347721.2
p.P83insFs
c.247dupC
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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."