Varaico: Literature-Extracted Genetic Variants

Gene:BMP2K
Variant:p.Q482Q

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.Q482Q
c.1446G>A
Surrounding Variants
1 paper
NM_198892.2
p.Q483Q
c.1449G>A
1 paper
NM_198892.2
p.Q481_Q482insFs
c.1443_1444insT
1 paper
NM_198892.2
p.Q481*
c.1441C>T
1 paper
NM_198892.2
p.Q480delFs
c.1439delA
1 paper
NM_198892.2
p.Q485Q
c.1455G>A
4 papers
NM_198892.2
p.Q486H
c.1458G>C
1 paper
NM_198892.2
p.Q486_H487ins2
c.1458_1459ins6
4 papers
NM_198892.2
p.Q486H
c.1458G>T
1 paper
NM_198892.2
p.H487del1
c.1459_1460delCAC
1 paper
NM_198892.2
p.H487P
c.1460A>C
1 paper
NM_198892.2
p.Q478*
c.1432C>T
2 papers
NM_198892.2
p.Q480_Q481ins1
c.1440_1441insCAG
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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."