Varaico: Literature-Extracted Genetic Variants

Gene:BMP15
Variant:p.Q302R

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
4 papers
NM_005448.2
p.Q302R
c.905A>G
Surrounding Variants
1 paper
NM_005448.2
p.L303L
c.907C>T
1 paper
NM_005448.2
p.G304delFs
c.911delG
1 paper
NM_005448.2
p.R301C
c.901C>T
1 paper
NM_005448.2
p.G304D
c.911G>A
2 papers
NM_005448.2
p.G304V
c.911G>T
1 paper
NM_005448.2
p.W305S
c.914G>C
1 paper
NM_005448.2
p.I298I
c.894C>T
2 papers
NM_005448.2
p.H307Y
c.919C>T
2 papers
NM_005448.2
p.H307R
c.920A>G
1 paper
NM_005448.2
p.H294N
c.880C>A
3 papers
NM_005448.2
p.A311T
c.931G>A
1 paper
NM_005448.2
p.L293F
c.877C>T
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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."