Varaico: Literature-Extracted Genetic Variants

Gene:BMP10
Variant:p.N177I

BMP10

111 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 51–256UCSCTGF-beta propeptide
TGF_betaaa 322–423UCSCTransforming growth factor beta like domain

Gene Aliases

HGNC Name

bone morphogenetic protein 10

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014482.3
p.N177I
c.530A>T
Surrounding Variants
1 paper
NM_014482.3
p.D176N
c.526G>A
1 paper
NM_014482.3
p.I167_K174delFs
c.499_520del22
1 paper
NM_014482.3
p.F168S
c.503T>C
1 paper
NM_014482.3
p.R163Q
c.488G>A
1 paper
NM_014482.3
p.Y192C
c.575A>G
2 papers
NM_014482.3
p.N195T
c.584A>C
1 paper
NM_014482.3
p.D159N
c.475G>A
1 paper
NM_014482.3
p.N195K
c.585C>G
1 paper
NM_014482.3
p.N195K
c.585C>A
5 papers
NM_014482.3
p.T200S
c.598A>T
6 papers
NM_014482.3
p.T200S
c.599C>G
1 paper
NM_014482.3
p.D202H
c.604G>C
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