Varaico: Literature-Extracted Genetic Variants

Gene:BMP15
Variant:p.L234P

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.L234P
c.701T>C
Surrounding Variants
49 papers
NM_005448.2
p.Y235C
c.704A>G
1 paper
NM_005448.2
p.F231S
c.692T>C
1 paper
NM_005448.2
p.F231_L233del0
c.691_699del9
1 paper
NM_005448.2
p.T239I
c.716C>T
6 papers
NM_005448.2
p.H240Y
c.718C>T
4 papers
NM_005448.2
p.I243V
c.727A>G
1 paper
NM_005448.2
p.R244R
c.732G>A
3 papers
NM_005448.2
p.K245K
c.735G>A
1 paper
NM_005448.2
p.G223_L234ins4
c.667_702dup36
1 paper
NM_005448.2
p.H222D
c.664C>G
6 papers
NM_005448.2
p.W221R
c.661T>A
6 papers
NM_005448.2
p.W221R
c.661T>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."