Varaico: Literature-Extracted Genetic Variants

Gene:GDF5
Variant:p.T203N

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
2 papers
NM_000557.5
p.T203N
c.608C>A
Surrounding Variants
6 papers
NM_000557.5
p.S204R
c.610A>C
6 papers
NM_000557.5
p.S204R
c.612C>G
8 papers
NM_000557.5
p.S204R
c.612C>A
1 paper
NM_000557.5
p.F205I
c.613T>A
1 paper
NM_000557.5
p.T201A
c.601A>G
4 papers
NM_000557.5
p.T201P
c.601A>C
1 paper
NM_000557.5
p.I206_D207insG
c.616_620ins3
2 papers
NM_000557.5
p.L198L
c.594G>A
1 paper
NM_000557.5
p.G197delFs
c.589delC
1 paper
NM_000557.5
p.A196A
c.588T>A
1 paper
NM_000557.5
p.Q210H
c.630A>T
1 paper
NM_000557.5
p.Q210H
c.630A>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."