Varaico: Literature-Extracted Genetic Variants

Gene:GDF9
Variant:p.L347P

GDF9

208 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 264–365UCSCTransforming growth factor beta like domain

Gene Aliases

HGNC Name

growth differentiation factor 9

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
5 papers
NM_005260.7
p.L347P
c.1040T>C
Surrounding Variants
1 paper
NM_005260.7
p.L348F
c.1042C>T
1 paper
NM_005260.7
p.P349A
c.1045C>G
3 papers
NM_005260.7
p.Y342F
c.1025A>T
1 paper
NM_005260.7
p.Y342D
c.1024T>G
1 paper
NM_005260.7
p.E354K
c.1060G>A
1 paper
NM_005260.7
p.L355F
c.1063C>T
1 paper
NM_005260.7
p.F337L
c.1011C>A
1 paper
NM_005260.7
p.R359G
c.1075A>G
1 paper
NM_005260.7
p.L360F
c.1078C>T
1 paper
NM_005260.7
p.G333S
c.997G>A
1 paper
NM_005260.7
p.P331P
c.993C>T
3 papers
NM_005260.7
p.S363N
c.1088G>A
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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."