Varaico: Literature-Extracted Genetic Variants

Gene:BMP2
Variant:p.S258L

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.S258L
c.773C>T
Surrounding Variants
1 paper
NM_001200.4
p.Q259delFs
c.775delC
1 paper
NM_001200.4
p.S256delFs
c.768delC
1 paper
NM_001200.4
p.S256delFs
c.766delA
1 paper
NM_001200.4
p.R261K
c.782G>A
1 paper
NM_001200.4
p.H255Y
c.763C>T
1 paper
NM_001200.4
p.P262R
c.785C>G
1 paper
NM_001200.4
p.D253A
c.758A>C
1 paper
NM_001200.4
p.L263S
c.788T>C
1 paper
NM_001200.4
p.L264_V265insFs
c.792_793insC
2 papers
NM_001200.4
p.V265delFs
c.794delT
1 paper
NM_001200.4
p.S249F
c.746C>T
1 paper
NM_001200.4
p.G268V
c.803G>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."