Varaico: Literature-Extracted Genetic Variants

Gene:BMP15
Variant:p.R329H

BMP15

226 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

TGF_betaaa 290–391UCSCTransforming growth factor beta like domain

Gene Aliases

HGNC Name

bone morphogenetic protein 15

HGNC Alias Symbol

GDF9B

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
5 papers
NM_005448.2
p.R329H
c.986G>A
Surrounding Variants
10 papers
NM_005448.2
p.R329C
c.985C>T
1 paper
NM_005448.2
p.R326Q
c.977G>A
1 paper
NM_005448.2
p.S334delFs
c.1000delT
1 paper
NM_005448.2
p.N333K
c.999T>A
1 paper
NM_005448.2
p.N333K
c.999T>G
1 paper
NM_005448.2
p.S334P
c.1000T>C
1 paper
NM_005448.2
p.S334F
c.1001C>T
1 paper
NM_005448.2
p.C324Y
c.971G>A
1 paper
NM_005448.2
p.T323N
c.968C>A
1 paper
NM_005448.2
p.P335H
c.1004C>A
1 paper
NM_005448.2
p.T323insFs
c.968_969insA
2 papers
NM_005448.2
p.N336H
c.1006A>C
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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."