Varaico: Literature-Extracted Genetic Variants

Gene:BMP2
Variant:p.E27delFs

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.E27delFs
c.79delG
Surrounding Variants
1 paper
NM_001200.4
p.E27_L28del0
c.79_84del6
1 paper
NM_001200.4
p.P26S
c.76C>T
2 papers
NM_001200.4
p.E27*
c.79G>T
1 paper
NM_001200.4
p.E27fs
c.79_80fs
1 paper
NM_001200.4
p.V25_E27del0
c.74_79del6
1 paper
NM_001200.4
p.L24P
c.71T>C
1 paper
NM_001200.4
p.G23A
c.68G>C
1 paper
NM_001200.4
p.A22A
c.66T>G
1 paper
NM_001200.4
p.R31R
c.93G>A
1 paper
NM_001200.4
p.K32delFs
c.95delA
1 paper
NM_001200.4
p.K32R
c.95A>G
1 paper
NM_001200.4
p.F33C
c.98T>G
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