Varaico: Literature-Extracted Genetic Variants

Gene:GDF5
Variant:p.T368_V369delFs

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.T368_V369delFs
c.1102_1105del4
Surrounding Variants
1 paper
NM_000557.5
p.V369M
c.1105G>A
1 paper
NM_000557.5
p.Y370C
c.1109A>G
1 paper
NM_000557.5
p.V369_Y370delFs
c.1107_1108delAC
4 papers
NM_000557.5
p.Y372insFs
c.1114_1115ins4
1 paper
NM_000557.5
p.E371_Y372insFs
c.1111_1114dup4
1 paper
NM_000557.5
p.Y372*
c.1116C>G
1 paper
NM_000557.5
p.Y372*
c.1116C>A
7 papers
NM_000557.5
p.L373R
c.1118T>G
1 paper
NM_000557.5
p.L373delFs
c.1118delA
1 paper
NM_000557.5
p.S375N
c.1124G>A
1 paper
NM_000557.5
p.Q376H
c.1128G>T
1 paper
NM_000557.5
p.Q376H
c.1128G>C
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."