Varaico: Literature-Extracted Genetic Variants

Gene:GDF5
Variant:p.P152P

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.P152P
c.456C>A
Surrounding Variants
1 paper
NM_000557.5
p.E151_G153delFs
c.452_458del7
1 paper
NM_000557.5
p.E151fs
c.451_452fs
2 papers
NM_000557.5
p.P154L
c.461C>T
1 paper
NM_000557.5
p.A149A
c.447C>G
1 paper
NM_000557.5
p.K148delFs
c.442delT
1 paper
NM_000557.5
p.P158S
c.472C>T
1 paper
NM_000557.5
p.P155_E157delFs
c.465_471del7
1 paper
NM_000557.5
p.K159K
c.477G>A
1 paper
NM_000557.5
p.R163C
c.487C>T
1 paper
NM_000557.5
p.G138E
c.413G>A
1 paper
NM_000557.5
p.I167fs
c.499_500fs
4 papers
NM_000557.5
p.P166_I167insFs
c.498_499insC
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