Varaico: Literature-Extracted Genetic Variants

Gene:BMP15
Variant:p.I344T

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.I344T
c.1031T>C
Surrounding Variants
1 paper
NM_005448.2
p.Q346K
c.1036C>A
1 paper
NM_005448.2
p.N342I
c.1025A>T
1 paper
NM_005448.2
p.Q346H
c.1038G>T
1 paper
NM_005448.2
p.Q341H
c.1023G>C
1 paper
NM_005448.2
p.Q341H
c.1023G>T
1 paper
NM_005448.2
p.L347S
c.1040T>C
1 paper
NM_005448.2
p.L347F
c.1041G>C
1 paper
NM_005448.2
p.A338T
c.1012G>A
2 papers
NM_005448.2
p.Q350H
c.1050G>C
1 paper
NM_005448.2
p.H337N
c.1009C>A
2 papers
NM_005448.2
p.N336H
c.1006A>C
1 paper
NM_005448.2
p.P353S
c.1057C>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."