Varaico: Literature-Extracted Genetic Variants

Gene:BMP2
Variant:p.P140_T141del1

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.P140_T141del1
c.419_421delCCA
Surrounding Variants
1 paper
NM_001200.4
p.T141M
c.422C>T
1 paper
NM_001200.4
p.T141T
c.423G>A
1 paper
NM_001200.4
p.E142G
c.425A>G
1 paper
NM_001200.4
p.E143K
c.427G>A
1 paper
NM_001200.4
p.E143*
c.427G>T
1 paper
NM_001200.4
p.E143G
c.428A>G
1 paper
NM_001200.4
p.S137insFs
c.409dupA
1 paper
NM_001200.4
p.F144V
c.430T>G
1 paper
NM_001200.4
p.F144L
c.432T>A
1 paper
NM_001200.4
p.I145insFs
c.433dupA
1 paper
NM_001200.4
p.T146T
c.438C>T
1 paper
NM_001200.4
p.S147*
c.440C>A
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