Varaico: Literature-Extracted Genetic Variants

Gene:BMP2
Variant:p.R154Q

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
5 papers
NM_001200.4
p.R154Q
c.461G>A
Surrounding Variants
1 paper
NM_001200.4
p.R154G
c.460C>G
3 papers
NM_001200.4
p.R154*
c.460C>T
1 paper
NM_001200.4
p.F153L
c.459C>A
1 paper
NM_001200.4
p.F153L
c.459C>G
1 paper
NM_001200.4
p.E155_M157insFs
c.465_471dup7
2 papers
NM_001200.4
p.E155_M157delFs
c.465_471del7
1 paper
NM_001200.4
p.F153L
c.457T>C
1 paper
NM_001200.4
p.Q156insFs
c.467_468insT
2 papers
NM_001200.4
p.V152A
c.455T>C
1 paper
NM_001200.4
p.V152_R154delFs
c.455_461del7
2 papers
NM_001200.4
p.Q151_F153delFs
c.452_458del7
1 paper
NM_001200.4
p.E149D
c.447G>C
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