Varaico: Literature-Extracted Genetic Variants

Gene:BMP15
Variant:p.M1I

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
2 papers
NM_005448.2
p.M1I
c.3G>C
Surrounding Variants
2 papers
NM_005448.2
p.M1I
c.3G>A
2 papers
NM_005448.2
p.M1I
c.3G>T
2 papers
NM_005448.2
p.V2I
c.4G>A
29 papers
NM_005448.2
p.L3L
c.9C>G
15 papers
NM_005448.2
p.S5R
c.13A>C
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
1 paper
NM_005448.2
p.L7F
c.19C>T
1 paper
NM_005448.2
p.R8G
c.22A>G
3 papers
NM_005448.2
p.L10del1
c.28_30delCTT
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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."