Varaico: Literature-Extracted Genetic Variants

Gene:GDF5
Variant:p.M453V

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.M453V
c.1357A>G
Surrounding Variants
2 papers
NM_000557.5
p.M456V
c.1366A>G
1 paper
NM_000557.5
p.L452_P458del7
c.1354_1373del21
1 paper
NM_000557.5
p.E459E
c.1377G>A
7 papers
NM_000557.5
p.N445K
c.1335T>G
7 papers
NM_000557.5
p.N445K
c.1335T>A
5 papers
NM_000557.5
p.N445T
c.1334A>C
1 paper
NM_000557.5
p.L437_T444insFs
c.1309_1331dup23
1 paper
NM_000557.5
p.T444M
c.1331C>T
20 papers
NM_000557.5
p.L441P
c.1322T>C
3 papers
NM_000557.5
p.H440L
c.1319A>T
1 paper
NM_000557.5
p.C466Y
c.1397G>A
4 papers
NM_000557.5
p.S439T
c.1315T>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."