Varaico: Literature-Extracted Genetic Variants

Gene:DYRK1A
Variant:p.A195T

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_001396.5
p.A195T
c.583G>A
Surrounding Variants
1 paper
NM_001396.5
p.F196insFs
c.588dupT
1 paper
NM_001396.5
p.L197fs
c.589_590fs
1 paper
NM_001347721.2
p.L188_N189del1
c.563_565delTGA
1 paper
NM_001396.5
p.K191fs
c.571_572fs
1 paper
NM_001396.5
p.K191_N192delFs
c.572_575del4
1 paper
NM_001396.5
p.I190fs
c.568_569fs
4 papers
NM_001347721.2
p.A191_Q192delFs
c.572_575del4
1 paper
NM_001396.5
p.Q201_I202delFs
c.601_605del5
1 paper
NM_001396.5
p.I190_K191delFs
c.569_572del4
1 paper
NM_001347721.2
p.I180insFs
c.539dupT
1 paper
NM_001347721.2
p.I180L
c.538A>C
1 paper
NM_001396.5
p.Q201fs
c.601_602fs
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."