Varaico: Literature-Extracted Genetic Variants

Gene:BMP2K
Variant:p.F199L

BMP2K

114 papers

RefSeq Summary

This gene is the human homolog of mouse BMP-2-inducible kinase. Bone morphogenic proteins (BMPs) play a key role in skeletal development and patterning. Expression of the mouse gene is increased durin...

Pfam Domains

Pkinaseaa 51–316UCSCProtein kinase domain
BMP2K_Caa 893–1161UCSCBMP-2-inducible protein kinase C-terminus

Gene Aliases

HGNC Name

BMP2 inducible kinase

HGNC Alias Symbols

DKFZp434K0614; BIKe

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_198892.2
p.F199L
c.595T>C
Surrounding Variants
1 paper
NM_198892.2
p.F199L
c.597T>A
1 paper
NM_198892.2
p.F199L
c.597T>G
1 paper
NM_198892.2
p.S201_A202insAC
c.601_605ins6
1 paper
NM_198892.2
p.A202V
c.605C>T
1 paper
NM_198892.2
p.Y194H
c.580T>C
1 paper
NM_198892.2
p.V217I
c.649G>A
1 paper
NM_198892.2
p.E233V
c.698A>T
1 paper
NM_198892.2
p.N236S
c.707A>G
1 paper
NM_198892.2
p.G240W
c.718G>T
2 papers
NM_198892.2
p.K246N
c.738G>C
2 papers
NM_198892.2
p.K246N
c.738G>T
1 paper
NM_198892.2
p.C163delFs
c.487delT
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