Varaico: Literature-Extracted Genetic Variants

Gene:BMP7
Variant:p.E221A

BMP7

167 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 35–280UCSCTGF-beta propeptide
TGF_betaaa 329–430UCSCTransforming growth factor beta like domain

Gene Aliases

HGNC Name

bone morphogenetic protein 7

HGNC Alias Symbol

OP-1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001719.3
p.E221A
c.662A>C
Surrounding Variants
2 papers
NM_001719.3
p.E221K
c.661G>A
1 paper
NM_001719.3
p.G222delFs
c.666delG
1 paper
NM_001719.3
p.A218T
c.652G>A
1 paper
NM_001719.3
p.F226_D227del2
c.676_680del6
2 papers
NM_001719.3
p.D212N
c.634G>A
2 papers
NM_001719.3
p.L211F
c.631C>T
1 paper
NM_001719.3
p.T231delFs
c.693delG
1 paper
NM_001719.3
p.S232fs
c.694_695fs
1 paper
NM_001719.3
p.T231_N233del0
c.691_699del9
1 paper
NM_001719.3
p.S206L
c.617C>T
1 paper
NM_001719.3
p.R240W
c.718C>T
1 paper
NM_001719.3
p.G244_L245del2
c.730_734del6
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