Varaico: Literature-Extracted Genetic Variants

Gene:BMP8A
Variant:p.L313L

BMP8A

40 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 28–251UCSCTGF-beta propeptide
TGF_betaaa 300–401UCSCTransforming growth factor beta like domain

Gene Aliases

HGNC Name

bone morphogenetic protein 8a

HGNC Alias Symbols

OP-2; Op2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_181809.4
p.L313L
c.939T>C
Surrounding Variants
1 paper
NM_181809.4
p.R302C
c.904C>T
3 papers
NM_181809.4
p.R293H
c.878G>A
1 paper
NM_181809.4
p.D290Splc
c.869-31A>G
1 paper
NM_181809.4
p.S276T
c.827G>C
1 paper
NM_181809.4
p.R270K
c.809G>A
1 paper
NM_181809.4
p.P241S
c.721C>T
1 paper
NM_181809.4
p.K358M
c.1073A>T
1 paper
NM_181809.4
p.A361T
c.1081G>A
1 paper
NM_181809.4
p.P363S
c.1087C>T
1 paper
NM_181809.4
p.C366S
c.1096T>A
1 paper
NM_181809.4
p.C366S
c.1097G>C
1 paper
NM_181809.4
p.T370I
c.1109C>T
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."