Varaico: Literature-Extracted Genetic Variants

Gene:BMP2
Variant:p.E378V

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.E378V
c.1133A>T
Surrounding Variants
1 paper
NM_001200.4
p.K379R
c.1136A>G
1 paper
NM_001200.4
p.V380L
c.1138G>C
1 paper
NM_001200.4
p.V381del1
c.1141_1142delGTA
1 paper
NM_001200.4
p.V381_L382del2
c.1141_1145del6
1 paper
NM_001200.4
p.Y373_D375insFs
c.1119_1123dup5
1 paper
NM_001200.4
p.Y373C
c.1118A>G
1 paper
NM_001200.4
p.N384_Y385del2
c.1150_1154del6
1 paper
NM_001200.4
p.S370L
c.1109C>T
1 paper
NM_001200.4
p.D387_M388insC
c.1159_1163ins3
1 paper
NM_001200.4
p.A368D
c.1103C>A
2 papers
NM_001200.4
p.A368_I369insT
c.1102_1106ins3
1 paper
NM_001200.4
p.A368delFs
c.1102delG
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