Varaico: Literature-Extracted Genetic Variants

Gene:GDF5
Variant:p.W291*

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.W291*
c.872G>A
Surrounding Variants
2 papers
NM_000557.5
p.W291*
c.873G>A
1 paper
NM_000557.5
p.D279_S289del11
c.835_866del33
2 papers
NM_000557.5
p.W297_K298insC
c.889_893ins3
3 papers
NM_000557.5
p.V283M
c.847G>A
1 paper
NM_000557.5
p.S282P
c.844T>C
1 paper
NM_000557.5
p.F300L
c.900C>A
8 papers
NM_000557.5
p.R301*
c.901C>T
1 paper
NM_000557.5
p.R301Q
c.902G>A
1 paper
NM_000557.5
p.L278R
c.833T>G
3 papers
NM_000557.5
p.L277delFs
c.830delA
1 paper
NM_000557.5
p.L277V
c.829T>G
5 papers
NM_000557.5
p.A276S
c.826G>T
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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."