Varaico: Literature-Extracted Genetic Variants

Gene:BMP15
Variant:p.V152A

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.V152A
c.455T>C
Surrounding Variants
1 paper
NM_005448.2
p.E153E
c.459G>A
2 papers
NM_005448.2
p.P154delFs
c.462delC
1 paper
NM_005448.2
p.P154_N159delFs
c.460_476del17
1 paper
NM_005448.2
p.C150S
c.448T>A
4 papers
NM_005448.2
p.S149S
c.447C>T
1 paper
NM_005448.2
p.W155G
c.463T>G
2 papers
NM_005448.2
p.W155fs
c.463_464fs
25 papers
NM_005448.2
p.L148P
c.443T>C
2 papers
NM_005448.2
p.V156V
c.468G>A
1 paper
NM_005448.2
p.F146S
c.437T>C
1 paper
NM_005448.2
p.T161I
c.482C>T
1 paper
NM_005448.2
p.N162I
c.485A>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."