Varaico: Literature-Extracted Genetic Variants

Gene:BMP2K
Variant:p.Q468H

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.Q468H
c.1404A>T
Surrounding Variants
1 paper
NM_198892.2
p.Q468L
c.1403A>T
1 paper
NM_198892.2
p.Q468*
c.1402C>T
1 paper
NM_198892.2
p.Q467Q
c.1401G>A
1 paper
NM_198892.2
p.Q466Q
c.1398G>A
1 paper
NM_198892.2
p.Q467_Q470del4
c.1399_1409del12
7 papers
NM_198892.2
p.Q460H
c.1380G>C
7 papers
NM_198892.2
p.Q460H
c.1380G>T
2 papers
NM_198892.2
p.Q480_Q481ins1
c.1440_1441insCAG
4 papers
NM_198892.2
p.Q478del1
c.1432_1433delCAG
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.Q460del1
c.1378_1379delCAG
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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."