Varaico: Literature-Extracted Genetic Variants

Gene:GDF5
Variant:p.G138E

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.G138E
c.413G>A
Surrounding Variants
4 papers
NM_000557.5
p.P135delFs
c.404delG
1 paper
NM_000557.5
p.P135fs
c.403_404fs
1 paper
NM_000557.5
p.P134P
c.402C>T
1 paper
NM_000557.5
p.P134S
c.400C>T
1 paper
NM_000557.5
p.A133fs
c.397_398fs
1 paper
NM_000557.5
p.A133delFs
c.397delC
2 papers
NM_000557.5
p.G131S
c.391G>A
1 paper
NM_000557.5
p.P129R
c.386C>G
1 paper
NM_000557.5
p.K148delFs
c.442delT
1 paper
NM_000557.5
p.A149A
c.447C>G
1 paper
NM_000557.5
p.E151fs
c.451_452fs
1 paper
NM_000557.5
p.P152P
c.456C>A
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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."