Varaico: Literature-Extracted Genetic Variants

Gene:PNCK
Variant:p.M1V

PNCK

20 papers

RefSeq Summary

PNCK is a member of the calcium/calmodulin-dependent protein kinase family of protein serine/threonine kinases (see CAMK1; MIM 604998) (Gardner et al., 2000 [PubMed 10673339]).[supplied by OMIM, Mar 2...

Pfam Domains

Pkinaseaa 15–270UCSCProtein kinase domain

Gene Aliases

HGNC Name

pregnancy up-regulated nonubiquitous CaM kinase

HGNC Alias Symbols

MGC45419; CaMK1b

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001366977.1
p.M1V
c.1A>G
Surrounding Variants
1 paper
NM_001366977.1
p.M1K
c.2T>A
1 paper
NM_001366977.1
p.K49M
c.146A>T
1 paper
NM_001366977.1
p.A50V
c.149C>T
1 paper
NM_001366977.1
p.R67Splc
c.201-19C>T
1 paper
NM_001366977.1
p.L98P
c.293T>C
1 paper
NM_001366977.1
p.R105S
c.313C>A
1 paper
NM_001366977.1
p.E110Q
c.328G>C
1 paper
NM_001366977.1
p.A113P
c.337G>C
1 paper
NM_001366977.1
p.A180P
c.538G>C
1 paper
NM_001366977.1
p.A180Splc
c.539-8G>T
1 paper
NM_001366977.1
p.K187E
c.559A>G
1 paper
NM_001366977.1
p.P218S
c.652C>T
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