Varaico: Literature-Extracted Genetic Variants

Gene:BMP10
Variant:p.D259E

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
2 papers
NM_014482.3
p.D259E
c.777C>A
Surrounding Variants
2 papers
NM_014482.3
p.D259E
c.777C>G
1 paper
NM_014482.3
p.D263insFs
c.788dupA
1 paper
NM_014482.3
p.E265K
c.793G>A
1 paper
NM_014482.3
p.R266T
c.797G>C
1 paper
NM_014482.3
p.P251delFs
c.751delG
1 paper
NM_014482.3
p.M273R
c.818T>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.D242D
c.726T>C
1 paper
NM_014482.3
p.R238W
c.712C>T
1 paper
NM_014482.3
p.G286insFs
c.857dupG
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