Varaico: Literature-Extracted Genetic Variants

Gene:GDF5
Variant:p.R100fs

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.R100fs
c.298_299fs
Surrounding Variants
7 papers
NM_000557.5
p.P99_R100insFs
c.297_298insC
1 paper
NM_000557.5
p.G102G
c.306C>G
1 paper
NM_000557.5
p.G103D
c.308G>A
1 paper
NM_000557.5
p.K95R
c.284A>G
1 paper
NM_000557.5
p.E93G
c.278A>G
1 paper
NM_000557.5
p.E93K
c.277G>A
1 paper
NM_000557.5
p.D92E
c.276T>G
1 paper
NM_000557.5
p.D92E
c.276T>A
1 paper
NM_000557.5
p.P89P
c.267C>G
1 paper
NM_000557.5
p.Q88Fs
c.263_264delinsTFs
1 paper
NM_000557.5
p.P111H
c.332C>A
1 paper
NM_000557.5
p.Q113*
c.337C>T
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