Varaico: Literature-Extracted Genetic Variants

Gene:BMP15
Variant:p.N196S

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.N196S
c.587A>G
Surrounding Variants
8 papers
NM_005448.2
p.N196K
c.588T>A
8 papers
NM_005448.2
p.N196K
c.588T>G
9 papers
NM_005448.2
p.F194S
c.581T>C
5 papers
NM_005448.2
p.G199R
c.595G>A
5 papers
NM_005448.2
p.G199R
c.595G>C
3 papers
NM_005448.2
p.H200Y
c.598C>T
1 paper
NM_005448.2
p.Q192R
c.575A>G
1 paper
NM_005448.2
p.I202I
c.606C>T
1 paper
NM_005448.2
p.L189H
c.566T>A
1 paper
NM_005448.2
p.L189_K198del10
c.565_593del30
1 paper
NM_005448.2
p.Q188R
c.563A>G
1 paper
NM_005448.2
p.L205delFs
c.615delC
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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."