Varaico: Literature-Extracted Genetic Variants

Gene:DYRK1A
Variant:p.R700C

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.R700C
c.2098C>T
Surrounding Variants
1 paper
NM_001347721.2
p.R700H
c.2099G>A
1 paper
NM_001347721.2
p.T703P
c.2107A>C
1 paper
NM_001347721.2
p.G704G
c.2112C>G
1 paper
NM_001347721.2
p.V695A
c.2084T>C
1 paper
NM_001347721.2
p.N692N
c.2076T>C
1 paper
NM_001396.5
p.L702_T703del2
c.2104_2108del6
1 paper
NM_001347721.2
p.A688A
c.2064T>C
1 paper
NM_001347721.2
p.A715G
c.2144C>G
1 paper
NM_001347721.2
p.G718R
c.2152G>C
1 paper
NM_001347721.2
p.P675P
c.2025A>C
1 paper
NM_001347721.2
p.T724S
c.2171C>G
1 paper
NM_001347721.2
p.T724T
c.2172T>C
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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."