Varaico: Literature-Extracted Genetic Variants

Gene:BMP2K
Variant:p.Q478del1

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
4 papers
NM_198892.2
p.Q478del1
c.1432_1433delCAG
Surrounding Variants
2 papers
NM_198892.2
p.Q480_Q481ins1
c.1440_1441insCAG
2 papers
NM_198892.2
p.Q478_Q480del0
c.1432_1440del9
1 paper
NM_198892.2
p.Q478_Q482del0
c.1432_1446del15
1 paper
NM_198892.2
p.Q478*
c.1432C>T
1 paper
NM_198892.2
p.Q480delFs
c.1439delA
1 paper
NM_198892.2
p.Q481*
c.1441C>T
1 paper
NM_198892.2
p.Q481_Q482insFs
c.1443_1444insT
1 paper
NM_198892.2
p.Q482Q
c.1446G>A
1 paper
NM_198892.2
p.Q483Q
c.1449G>A
1 paper
NM_198892.2
p.Q485Q
c.1455G>A
1 paper
NM_198892.2
p.Q468H
c.1404A>T
4 papers
NM_198892.2
p.Q486H
c.1458G>C
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