Varaico: Literature-Extracted Genetic Variants

Gene:BMP15
Variant:p.A39V

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
1 paper
NM_005448.2
p.A39V
c.116C>T
Surrounding Variants
1 paper
NM_005448.2
p.A37P
c.109G>C
1 paper
NM_005448.2
p.P43T
c.127C>A
1 paper
NM_005448.2
p.I45V
c.133A>G
1 paper
NM_005448.2
p.S31_I33del3
c.91_98del9
1 paper
NM_005448.2
p.G28G
c.84A>G
2 papers
NM_005448.2
p.E51delFs
c.151_152delGA
1 paper
NM_005448.2
p.E51G
c.152A>G
1 paper
NM_005448.2
p.M25R
c.74T>G
1 paper
NM_005448.2
p.Q24R
c.71A>G
3 papers
NM_005448.2
p.E55K
c.163G>A
1 paper
NM_005448.2
p.A23G
c.68C>G
2 papers
NM_005448.2
p.E55D
c.165A>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."