Varaico: Literature-Extracted Genetic Variants

Gene:BMP2
Variant:p.T129I

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.T129I
c.386C>T
Surrounding Variants
1 paper
NM_001200.4
p.T129_R130insFs
c.387_388insC
1 paper
NM_001200.4
p.T128_T129delFs
c.384_385delAA
1 paper
NM_001200.4
p.R130Q
c.389G>A
2 papers
NM_001200.4
p.R130R
c.390G>C
1 paper
NM_001200.4
p.R131_F134del4
c.391_401del12
1 paper
NM_001200.4
p.K127N
c.381A>C
1 paper
NM_001200.4
p.K127N
c.381A>T
1 paper
NM_001200.4
p.K127R
c.380A>G
7 papers
NM_001200.4
p.R131S
c.393A>C
8 papers
NM_001200.4
p.R131S
c.393A>T
1 paper
NM_001200.4
p.K127_T128delFs
c.381_382delAA
1 paper
NM_001200.4
p.S125N
c.374G>A
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