Varaico: Literature-Extracted Genetic Variants

Gene:BMP2
Variant:p.V244G

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.V244G
c.731T>G
Surrounding Variants
1 paper
NM_001200.4
p.R242delFs
c.726delA
1 paper
NM_001200.4
p.R242*
c.724A>T
1 paper
NM_001200.4
p.K241R
c.722A>G
2 papers
NM_001200.4
p.R248W
c.742A>T
1 paper
NM_001200.4
p.V239V
c.717C>T
1 paper
NM_001200.4
p.S249F
c.746C>T
1 paper
NM_001200.4
p.V239I
c.715G>A
1 paper
NM_001200.4
p.Q237*
c.709C>T
1 paper
NM_001200.4
p.K236R
c.707A>G
1 paper
NM_001200.4
p.D253A
c.758A>C
1 paper
NM_001200.4
p.H255Y
c.763C>T
1 paper
NM_001200.4
p.S256delFs
c.766delA
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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."