Varaico: Literature-Extracted Genetic Variants

Gene:GDF5
Variant:p.S475N

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
8 papers
NM_000557.5
p.S475N
c.1424G>A
Surrounding Variants
1 paper
NM_000557.5
p.I474F
c.1420A>T
1 paper
NM_000557.5
p.P473L
c.1418C>T
1 paper
NM_000557.5
p.L477L
c.1431C>T
1 paper
NM_000557.5
p.C465_L471del7
c.1393_1412del21
1 paper
NM_000557.5
p.T469R
c.1406C>G
1 paper
NM_000557.5
p.N483S
c.1448A>G
1 paper
NM_000557.5
p.C466Y
c.1397G>A
1 paper
NM_000557.5
p.V485M
c.1453G>A
1 paper
NM_000557.5
p.V486M
c.1456G>A
6 papers
NM_000557.5
p.Y487*
c.1461T>G
4 papers
NM_000557.5
p.Y487*
c.1461T>A
1 paper
NM_000557.5
p.K488*
c.1462A>T
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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."