Varaico: Literature-Extracted Genetic Variants

Gene:BMP10
Variant:p.F290delFs

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.F290delFs
c.868delA
Surrounding Variants
1 paper
NM_014482.3
p.L279_S289del11
c.835_866del33
1 paper
NM_014482.3
p.D288N
c.862G>A
1 paper
NM_014482.3
p.L287fs
c.859_860fs
1 paper
NM_014482.3
p.G286insFs
c.857dupG
1 paper
NM_014482.3
p.Y308C
c.923A>G
1 paper
NM_014482.3
p.M273I
c.819G>T
1 paper
NM_014482.3
p.M273I
c.819G>C
1 paper
NM_014482.3
p.M273I
c.819G>A
1 paper
NM_014482.3
p.M273R
c.818T>G
3 papers
NM_014482.3
p.D309A
c.926A>C
2 papers
NM_014482.3
p.R313*
c.937C>T
1 paper
NM_014482.3
p.I314S
c.941T>G
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