Varaico: Literature-Extracted Genetic Variants

Gene:GDF5
Variant:p.N445K

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
7 papers
NM_000557.5
p.N445K
c.1335T>A
Surrounding Variants
7 papers
NM_000557.5
p.N445K
c.1335T>G
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
4 papers
NM_000557.5
p.S439T
c.1315T>A
1 paper
NM_000557.5
p.F435_R438insFs
c.1304_1313dup10
18 papers
NM_000557.5
p.R438L
c.1313G>T
2 papers
NM_000557.5
p.M453V
c.1357A>G
17 papers
NM_000557.5
p.R438C
c.1312C>T
4 papers
NM_000557.5
p.P436T
c.1306C>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."