Varaico: Literature-Extracted Genetic Variants

Gene:BMP15
Variant:p.L127L

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
2 papers
NM_005448.2
p.L127L
c.381A>G
Surrounding Variants
1 paper
NM_005448.2
p.R125*
c.373C>T
1 paper
NM_005448.2
p.N124I
c.371A>T
2 papers
NM_005448.2
p.V131_R132insFs
c.393_394insT
1 paper
NM_005448.2
p.R132G
c.394A>G
1 paper
NM_005448.2
p.R132*
c.394A>T
1 paper
NM_005448.2
p.V135M
c.403G>A
1 paper
NM_005448.2
p.P120T
c.358C>A
1 paper
NM_005448.2
p.V135G
c.404T>G
6 papers
NM_005448.2
p.V136L
c.406G>C
1 paper
NM_005448.2
p.Y137N
c.409T>A
1 paper
NM_005448.2
p.Y137D
c.409T>G
2 papers
NM_005448.2
p.L117L
c.349C>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."