Varaico: Literature-Extracted Genetic Variants

Gene:BMP5
Variant:p.H2D

BMP5

105 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 32–304UCSCTGF-beta propeptide
TGF_betaaa 352–453UCSCTransforming growth factor beta like domain

Gene Aliases

HGNC Name

bone morphogenetic protein 5

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_021073.4
p.H2D
c.4C>G
Surrounding Variants
1 paper
NM_021073.4
p.H2Y
c.4C>T
1 paper
NM_021073.4
p.L3_T4insFs
c.9_10ins8
1 paper
NM_021073.4
p.G30fs
c.88_89fs
1 paper
NM_021073.4
p.G30delFs
c.88_89delCC
1 paper
NM_021073.4
p.V34F
c.100G>T
1 paper
NM_021073.4
p.V34V
c.102T>C
2 papers
NM_021073.4
p.S37S
c.111T>C
1 paper
NM_021073.4
p.R44Q
c.131G>A
1 paper
NM_021073.4
p.E50K
c.148G>A
1 paper
NM_021073.4
p.I51K
c.152T>A
1 paper
NM_021073.4
p.I51delFs
c.151_152delAT
1 paper
NM_021073.4
p.P65A
c.193C>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."