Varaico: Literature-Extracted Genetic Variants

Gene:BMP2
Variant:p.V345delFs

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.V345delFs
c.1034delT
Surrounding Variants
1 paper
NM_001200.4
p.S351delFs
c.1052_1053delCT
2 papers
NM_001200.4
p.N350K
c.1050C>G
1 paper
NM_001200.4
p.V352insFs
c.1055_1056insAT
1 paper
NM_001200.4
p.N353delFs
c.1059delC
1 paper
NM_001200.4
p.H336Y
c.1006C>T
1 paper
NM_001200.4
p.S354F
c.1061C>T
1 paper
NM_001200.4
p.K355R
c.1064A>G
1 paper
NM_001200.4
p.P332_L333insTC
c.994_998ins6
1 paper
NM_001200.4
p.P332S
c.994C>T
1 paper
NM_001200.4
p.K358R
c.1073A>G
1 paper
NM_001200.4
p.C329*
c.987C>A
2 papers
NM_001200.4
p.C361Y
c.1082G>A
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