Varaico: Literature-Extracted Genetic Variants

Gene:BMP2
Variant:p.S137insFs

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.S137insFs
c.409dupA
Surrounding Variants
1 paper
NM_001200.4
p.P140_T141del1
c.419_421delCCA
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.T141M
c.422C>T
1 paper
NM_001200.4
p.T141T
c.423G>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.E142G
c.425A>G
1 paper
NM_001200.4
p.R130Q
c.389G>A
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
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."