Varaico: Literature-Extracted Genetic Variants

Gene:DYRK1A
Variant:p.G431E

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
1 paper
NM_001347721.2
p.G431E
c.1292G>A
Surrounding Variants
1 paper
NM_001347721.2
p.E432*
c.1294G>T
1 paper
NM_001347721.2
p.E432insFs
c.1296dupG
1 paper
NM_001396.5
p.A439Fs
c.1316_1317delinsTCATACFs
1 paper
NM_001396.5
p.A439delFs
c.1316delC
1 paper
NM_001347721.2
p.S433insFs
c.1298dupC
1 paper
NM_001347721.2
p.S433insFs
c.1298_1299insT
2 papers
NM_001347721.2
p.R429H
c.1286G>A
11 papers
NM_001396.5
p.R437*
c.1309C>T
NM_001347721.2
p.R428*
c.1282C>T
1 paper
NM_001396.5
p.T445insFs
c.1333dupA
1 paper
NM_001396.5
p.T445fs
c.1333_1334fs
1 paper
NM_001396.5
p.P434fs
c.1300_1301fs
1 paper
NM_001347721.2
p.D439_L441delFs
c.1317_1321del5
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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."