Varaico: Literature-Extracted Genetic Variants

Gene:GDF5
Variant:p.L53delFs

GDF5

218 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 144–345UCSCTGF-beta propeptide
TGF_betaaa 399–500UCSCTransforming growth factor beta like domain

Gene Aliases

HGNC Name

growth differentiation factor 5

HGNC Alias Symbols

CDMP1; BMP14

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_000557.5
p.L53delFs
c.158delA
Surrounding Variants
2 papers
NM_000557.5
p.L53fs
c.157_158fs
6 papers
NM_000557.5
p.L53insFs
c.158_159insC
1 paper
NM_000557.5
p.L53delFs
c.157delG
3 papers
NM_000557.5
p.L53fs
c.157_158fs
1 paper
NM_000557.5
p.V57V
c.171C>T
1 paper
NM_000557.5
p.P60P
c.180A>T
1 paper
NM_000557.5
p.G61E
c.182G>A
5 papers
NM_000557.5
p.G41delFs
c.121delC
2 papers
NM_000557.5
p.G41fs
c.121_122fs
9 papers
NM_000557.5
p.A69insFs
c.206_207insG
1 paper
NM_000557.5
p.T70fs
c.208_209fs
1 paper
NM_000557.5
p.N71D
c.211A>G
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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."