Varaico: Literature-Extracted Genetic Variants

Gene:GDF2
Variant:p.D290delFs

GDF2

164 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 52–257UCSCTGF-beta propeptide
TGF_betaaa 326–428UCSCTransforming growth factor beta like domain

Gene Aliases

HGNC Name

growth differentiation factor 2

HGNC Alias Symbols

BMP-9; BMP9

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_016204.4
p.D290delFs
c.868delG
Surrounding Variants
1 paper
NM_016204.4
p.K289*
c.865A>T
4 papers
NM_016204.4
p.G291S
c.871G>A
1 paper
NM_016204.4
p.L287Q
c.860T>A
2 papers
NM_016204.4
p.L287fs
c.859_860fs
1 paper
NM_016204.4
p.K286insFs
c.857dupA
1 paper
NM_016204.4
p.E294fs
c.880_881fs
1 paper
NM_016204.4
p.V283M
c.847G>A
1 paper
NM_016204.4
p.S282fs
c.844_845fs
1 paper
NM_016204.4
p.S282fs
c.844_845fs
1 paper
NM_016204.4
p.E297K
c.889G>A
1 paper
NM_016204.4
p.Q280delFs
c.840delA
1 paper
NM_016204.4
p.S299T
c.896G>C
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