Varaico: Literature-Extracted Genetic Variants

Gene:BMP2
Variant:p.E119Q

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.E119Q
c.355G>C
Surrounding Variants
1 paper
NM_001200.4
p.E119A
c.356A>C
2 papers
NM_001200.4
p.E120K
c.358G>A
1 paper
NM_001200.4
p.S117F
c.350C>T
1 paper
NM_001200.4
p.P122Q
c.365C>A
1 paper
NM_001200.4
p.E123K
c.367G>A
1 paper
NM_001200.4
p.E123insFs
c.368_369insC
1 paper
NM_001200.4
p.E123insFs
c.368_369insT
1 paper
NM_001200.4
p.T124A
c.370A>G
1 paper
NM_001200.4
p.S125C
c.373A>T
1 paper
NM_001200.4
p.S125N
c.374G>A
1 paper
NM_001200.4
p.K127_T128delFs
c.381_382delAA
1 paper
NM_001200.4
p.K127R
c.380A>G
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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."