Varaico: Literature-Extracted Genetic Variants

Gene:BMP2
Variant:p.F53L

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.F53L
c.157T>C
Surrounding Variants
1 paper
NM_001200.4
p.E54A
c.161A>C
1 paper
NM_001200.4
p.S51T
c.152G>C
1 paper
NM_001200.4
p.L50L
c.150G>T
1 paper
NM_001200.4
p.R56G
c.166C>G
1 paper
NM_001200.4
p.L57L
c.169C>T
2 papers
NM_001200.4
p.E48*
c.142G>T
1 paper
NM_001200.4
p.M60T
c.179T>C
1 paper
NM_001200.4
p.Q44_P45delFs
c.131_134del4
2 papers
NM_001200.4
p.L63V
c.187C>G
2 papers
NM_001200.4
p.S42S
c.126A>C
1 paper
NM_001200.4
p.L63delFs
c.189delG
1 paper
NM_001200.4
p.S42T
c.124T>A
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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."