Varaico: Literature-Extracted Genetic Variants

Gene:GDF11
Variant:p.Y316S

GDF11

44 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

TGFb_propeptideaa 60–287UCSCTGF-beta propeptide
TGF_betaaa 312–406UCSCTransforming growth factor beta like domain

Gene Aliases

HGNC Name

growth differentiation factor 11

HGNC Alias Symbols

BMP-11; BMP11

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005811.5
p.Y316S
c.947A>C
Surrounding Variants
1 paper
NM_005811.5
p.T319insFs
c.955dupA
2 papers
NM_005811.5
p.T319fs
c.955_956fs
1 paper
NM_005811.5
p.C313Y
c.938G>A
1 paper
NM_005811.5
p.R312H
c.935G>A
2 papers
NM_005811.5
p.E306K
c.916G>A
1 paper
NM_005811.5
p.D328N
c.982G>A
2 papers
NM_005811.5
p.R298Q
c.893G>A
1 paper
NM_005811.5
p.R298P
c.893G>C
3 papers
NM_005811.5
p.Y336*
c.1008C>A
3 papers
NM_005811.5
p.Y336*
c.1008C>G
1 paper
NM_005811.5
p.K337E
c.1009A>G
2 papers
NM_005811.5
p.R295P
c.884G>C
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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."