Varaico: Literature-Extracted Genetic Variants

Gene:BMP10
Variant:p.G48insFs

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.G48insFs
c.143dupG
Surrounding Variants
1 paper
NM_014482.3
p.D47N
c.139G>A
1 paper
NM_014482.3
p.T53I
c.158C>T
2 papers
NM_014482.3
p.Q56*
c.166C>T
1 paper
NM_014482.3
p.Q56H
c.168G>T
1 paper
NM_014482.3
p.Q56H
c.168G>C
1 paper
NM_014482.3
p.S57N
c.170G>A
1 paper
NM_014482.3
p.L32Q
c.95T>A
1 paper
NM_014482.3
p.N26N
c.78C>T
1 paper
NM_014482.3
p.M25I
c.75G>T
1 paper
NM_014482.3
p.M25I
c.75G>C
1 paper
NM_014482.3
p.M25I
c.75G>A
1 paper
NM_014482.3
p.T73M
c.218C>T
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