Varaico: Literature-Extracted Genetic Variants

Gene:BMP2K
Variant:p.H304Y

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.H304Y
c.910C>T
Surrounding Variants
1 paper
NM_198892.2
p.D307E
c.921T>A
1 paper
NM_198892.2
p.Q310E
c.928C>G
1 paper
NM_198892.2
p.L298delFs
c.892_893delCT
2 papers
NM_198892.2
p.S326C
c.977C>G
1 paper
NM_198892.2
p.S331F
c.992C>T
1 paper
NM_198892.2
p.E339Q
c.1015G>C
1 paper
NM_198892.2
p.P384H
c.1151C>A
1 paper
NM_198892.2
p.T388P
c.1162A>C
1 paper
NM_198892.2
p.V398A
c.1193T>C
3 papers
NM_198892.2
p.G405S
c.1213G>A
1 paper
NM_198892.2
p.H407Q
c.1221T>A
1 paper
NM_198892.2
p.N289S
c.866A>G
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