Varaico: Literature-Extracted Genetic Variants

Gene:BMP2
Variant:p.K293Q

BMP2

396 papers

RefSeq Summary

This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activat...

Pfam Domains

TGFb_propeptideaa 42–267UCSCTGF-beta propeptide
TGF_betaaa 295–395UCSCTransforming growth factor beta like domain

Gene Aliases

HGNC Name

bone morphogenetic protein 2

HGNC Previous Symbol

BMP2A

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001200.4
p.K293Q
c.877A>C
Surrounding Variants
1 paper
NM_001200.4
p.K293_S294insC
c.877_881ins3
1 paper
NM_001200.4
p.K293R
c.878A>G
2 papers
NM_001200.4
p.L292F
c.874C>T
1 paper
NM_001200.4
p.K290insFs
c.869_870insT
1 paper
NM_001200.4
p.K290T
c.869A>C
1 paper
NM_001200.4
p.K290R
c.869A>G
1 paper
NM_001200.4
p.C296S
c.886T>A
1 paper
NM_001200.4
p.R289W
c.865C>T
1 paper
NM_001200.4
p.K297R
c.890A>G
1 paper
NM_001200.4
p.Q288R
c.863A>G
1 paper
NM_001200.4
p.K297N
c.891G>C
1 paper
NM_001200.4
p.K297N
c.891G>T
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