Varaico: Literature-Extracted Genetic Variants

Gene:BMP2
Variant:p.Y320fs

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
4 papers
NM_001200.4
p.Y320fs
c.958_959fs
Surrounding Variants
1 paper
NM_001200.4
p.G319V
c.956G>T
1 paper
NM_001200.4
p.H321delFs
c.961delC
1 paper
NM_001200.4
p.P318Q
c.953C>A
1 paper
NM_001200.4
p.P318fs
c.952_953fs
4 papers
NM_001200.4
p.P317insFs
c.949dupC
1 paper
NM_001200.4
p.P318delFs
c.953delC
1 paper
NM_001200.4
p.V315M
c.943G>A
2 papers
NM_001200.4
p.V315L
c.943G>T
1 paper
NM_001200.4
p.H326R
c.977A>G
1 paper
NM_001200.4
p.W313*
c.939G>A
2 papers
NM_001200.4
p.W313*
c.938G>A
1 paper
NM_001200.4
p.N311delFs
c.933delT
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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."