Varaico: Literature-Extracted Genetic Variants

Gene:BMP2K

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
1–12 of 147 variants
7 papers
NM_198892.2
p.Q460H
c.1380G>C
7 papers
NM_198892.2
p.Q460H
c.1380G>T
4 papers
NM_198892.2
p.Q478del1
c.1432_1433delCAG
4 papers
NM_198892.2
p.Q486H
c.1458G>C
4 papers
NM_198892.2
p.Q486H
c.1458G>T
3 papers
NM_198892.2
p.G24ins2
c.71_72ins6
3 papers
NM_198892.2
p.H71_G72ins6
c.211_215ins18
3 papers
NM_198892.2
p.G405S
c.1213G>A
3 papers
NM_198892.2
p.T1002S
c.3004A>T
3 papers
NM_198892.2
p.T1002S
c.3005C>G
2 papers
NM_198892.2
p.A58D
c.173C>A
2 papers
NM_198892.2
p.C160delFs
c.478delT
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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."