Varaico: Literature-Extracted Genetic Variants

Gene:BMP4
Variant:p.L199L

BMP4

511 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 44–275UCSCTGF-beta propeptide
TGF_betaaa 307–407UCSCTransforming growth factor beta like domain

Gene Aliases

HGNC Name

bone morphogenetic protein 4

HGNC Previous Symbol

BMP2B

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001202.6
p.L199L
c.597A>T
Surrounding Variants
1 paper
NM_001202.6
p.R198_L199insFs
c.592_596dup5
1 paper
NM_001202.6
p.L199V
c.595C>G
8 papers
NM_001202.6
p.R198*
c.592C>T
1 paper
NM_001202.6
p.T202A
c.604A>G
1 paper
NM_001202.6
p.T202K
c.605C>A
1 paper
NM_001202.6
p.I196I
c.588C>A
1 paper
NM_001202.6
p.H194delFs
c.581delT
1 paper
NM_001202.6
p.V205G
c.614T>G
2 papers
NM_001202.6
p.V205A
c.614T>C
1 paper
NM_001202.6
p.P192delFs
c.575_576delAG
3 papers
NM_001202.6
p.H207D
c.619C>G
1 paper
NM_001202.6
p.N208_V209insFs
c.624_625insA
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."