Varaico: Literature-Extracted Genetic Variants

Gene:GDF5
Variant:p.A28A

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
1 paper
NM_000557.5
p.A28A
c.84C>A
Surrounding Variants
1 paper
NM_000557.5
p.P29P
c.87T>A
1 paper
NM_000557.5
p.P35S
c.103C>T
1 paper
NM_000557.5
p.P35A
c.103C>G
1 paper
NM_000557.5
p.P35R
c.104C>G
1 paper
NM_000557.5
p.P35P
c.105C>G
1 paper
NM_000557.5
p.Q36insFs
c.106dupC
1 paper
NM_000557.5
p.D18A
c.53A>C
2 papers
NM_000557.5
p.G41fs
c.121_122fs
5 papers
NM_000557.5
p.G41delFs
c.121delC
1 paper
NM_000557.5
p.L6fs
c.16_17fs
1 paper
NM_000557.5
p.K5Q
c.13A>C
3 papers
NM_000557.5
p.L53fs
c.157_158fs
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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."