Varaico: Literature-Extracted Genetic Variants

Gene:BMP10
Variant:p.N121Y

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.N121Y
c.361A>T
Surrounding Variants
3 papers
NM_014482.3
p.R124*
c.370C>T
1 paper
NM_014482.3
p.R124Q
c.371G>A
1 paper
NM_014482.3
p.P117P
c.351G>A
2 papers
NM_014482.3
p.P117L
c.350C>T
2 papers
NM_014482.3
p.K125I
c.374A>T
1 paper
NM_014482.3
p.Q116L
c.347A>T
1 paper
NM_014482.3
p.L128fs
c.382_383fs
1 paper
NM_014482.3
p.V132M
c.394G>A
1 paper
NM_014482.3
p.E138Q
c.412G>C
1 paper
NM_014482.3
p.E139Q
c.415G>C
1 paper
NM_014482.3
p.L147L
c.441A>G
1 paper
NM_014482.3
p.D159N
c.475G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."