Varaico: Literature-Extracted Genetic Variants

Gene:BMP15
Variant:p.A278V

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.A278V
c.833C>T
Surrounding Variants
2 papers
NM_005448.2
p.T277T
c.831T>C
1 paper
NM_005448.2
p.S281L
c.842C>T
1 paper
NM_005448.2
p.A274V
c.821C>T
12 papers
NM_005448.2
p.S284S
c.852C>T
1 paper
NM_005448.2
p.G271S
c.811G>A
2 papers
NM_005448.2
p.G271C
c.811G>T
1 paper
NM_005448.2
p.P286L
c.857C>T
1 paper
NM_005448.2
p.R267*
c.799C>T
1 paper
NM_005448.2
p.C291Y
c.872G>A
1 paper
NM_005448.2
p.C291_S292ins1
c.873_874insTCT
4 papers
NM_005448.2
p.R264Q
c.791G>A
1 paper
NM_005448.2
p.L263_R264ins1
c.789_790insTCT
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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."