Varaico: Literature-Extracted Genetic Variants

Gene:DYRK1A
Variant:p.M30V

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.M30V
c.88A>G
Surrounding Variants
1 paper
NM_001347721.2
p.M30L
c.88A>C
1 paper
NM_001347721.2
p.M30L
c.88A>T
1 paper
NM_001347721.2
p.L28P
c.83T>C
1 paper
NM_001347721.2
p.Q33delFs
c.97delC
1 paper
NM_001347721.2
p.M34_S41del8
c.100_122del24
1 paper
NM_001347721.2
p.Q39E
c.115C>G
1 paper
NM_001347721.2
p.Y40_N47del8
c.118_140del24
1 paper
NM_001347721.2
p.S20T
c.58T>A
1 paper
NM_001347721.2
p.P19delFs
c.55_56delCC
1 paper
NM_001347721.2
p.L17I
c.49C>A
1 paper
NM_001347721.2
p.R43C
c.127C>T
1 paper
NM_001347721.2
p.R43H
c.128G>A
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