Varaico: Literature-Extracted Genetic Variants

Gene:GDF9
Variant:p.P261L

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.P261L
c.782C>T
Surrounding Variants
1 paper
NM_005260.7
p.P261S
c.781C>T
5 papers
NM_005260.7
p.P261delFs
c.783delG
5 papers
NM_005260.7
p.S262fs
c.784_785fs
8 papers
NM_005260.7
p.L263ins1
c.788_789insTCT
2 papers
NM_001288828.3
p.L177*
c.530T>G
NM_005260.7
p.L265*
c.794T>G
1 paper
NM_005260.7
p.L265*
c.794T>A
1 paper
NM_005260.7
p.Y266H
c.796T>C
1 paper
NM_005260.7
p.L253_F254delFs
c.759_762del4
1 paper
NM_005260.7
p.F254L
c.762T>G
1 paper
NM_005260.7
p.F254L
c.762T>A
1 paper
NM_005260.7
p.N268D
c.802A>G
1 paper
NM_005260.7
p.N268H
c.802A>C
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