Varaico: Literature-Extracted Genetic Variants

Gene:GDF9
Variant:p.L50R

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
1 paper
NM_005260.7
p.L50R
c.149T>G
Surrounding Variants
1 paper
NM_005260.7
p.L50P
c.149T>C
1 paper
NM_005260.7
p.Q51R
c.152A>G
1 paper
NM_005260.7
p.I53L
c.157A>T
1 paper
NM_005260.7
p.W47*
c.140G>A
1 paper
NM_005260.7
p.I53I
c.159A>T
1 paper
NM_005260.7
p.E55K
c.163G>A
1 paper
NM_005260.7
p.M45I
c.135G>A
1 paper
NM_005260.7
p.E55D
c.165G>T
1 paper
NM_005260.7
p.E55D
c.165G>C
1 paper
NM_005260.7
p.E55E
c.165G>A
3 papers
NM_005260.7
p.M45V
c.133A>G
6 papers
NM_005260.7
p.D57Y
c.169G>T
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