Varaico: Literature-Extracted Genetic Variants

Gene:BMP15
Variant:p.S31_I33del3

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.S31_I33del3
c.91_98del9
Surrounding Variants
1 paper
NM_005448.2
p.G28G
c.84A>G
1 paper
NM_005448.2
p.M25R
c.74T>G
1 paper
NM_005448.2
p.Q24R
c.71A>G
1 paper
NM_005448.2
p.A37P
c.109G>C
1 paper
NM_005448.2
p.A23G
c.68C>G
1 paper
NM_005448.2
p.A39V
c.116C>T
1 paper
NM_005448.2
p.E20E
c.60A>G
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.V16M
c.46G>A
1 paper
NM_005448.2
p.L15_V16insFs
c.45_46insG
2 papers
NM_005448.2
p.E14insFs
c.40dupG
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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."