Varaico: Literature-Extracted Genetic Variants

Gene:BMP10
Variant:p.E334K

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.E334K
c.1000G>A
Surrounding Variants
1 paper
NM_014482.3
p.E334V
c.1001A>T
1 paper
NM_014482.3
p.F332F
c.996C>T
1 paper
NM_014482.3
p.W337C
c.1011G>T
1 paper
NM_014482.3
p.D338Y
c.1012G>T
1 paper
NM_014482.3
p.P327S
c.979C>T
5 papers
NM_014482.3
p.T326I
c.977C>T
1 paper
NM_014482.3
p.P344A
c.1030C>G
1 paper
NM_014482.3
p.K324E
c.970A>G
2 papers
NM_014482.3
p.P344L
c.1031C>T
1 paper
NM_014482.3
p.G346E
c.1037G>A
1 paper
NM_014482.3
p.G320V
c.959G>T
2 papers
NM_014482.3
p.A318V
c.953C>T
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