Varaico: Literature-Extracted Genetic Variants

Gene:BMP15
Variant:p.S5R

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
15 papers
NM_005448.2
p.S5R
c.13A>C
Surrounding Variants
1 paper
NM_005448.2
p.S5_L12delFs
c.15_36del22
13 papers
NM_005448.2
p.S5R
c.15T>A
13 papers
NM_005448.2
p.S5R
c.15T>G
1 paper
NM_005448.2
p.I6F
c.16A>T
29 papers
NM_005448.2
p.L3L
c.9C>G
1 paper
NM_005448.2
p.L7F
c.19C>T
1 paper
NM_005448.2
p.R8G
c.22A>G
2 papers
NM_005448.2
p.V2I
c.4G>A
2 papers
NM_005448.2
p.M1I
c.3G>A
2 papers
NM_005448.2
p.M1I
c.3G>C
2 papers
NM_005448.2
p.M1I
c.3G>T
3 papers
NM_005448.2
p.L10del1
c.28_30delCTT
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."