Varaico: Literature-Extracted Genetic Variants

Gene:GDF2
Variant:p.L166V

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.L166V
c.496C>G
Surrounding Variants
1 paper
NM_016204.4
p.K167_D174delFs
c.499_520del22
1 paper
NM_016204.4
p.L166delFs
c.496delC
1 paper
NM_016204.4
p.G168E
c.503G>A
1 paper
NM_016204.4
p.P162A
c.484C>G
1 paper
NM_016204.4
p.V160M
c.478G>A
1 paper
NM_016204.4
p.Y173C
c.518A>G
1 paper
NM_016204.4
p.D174N
c.520G>A
1 paper
NM_016204.4
p.Q157_D161del5
c.469_482del15
1 paper
NM_016204.4
p.S155A
c.463T>G
1 paper
NM_016204.4
p.V154D
c.461T>A
2 papers
NM_016204.4
p.V154I
c.460G>A
1 paper
NM_016204.4
p.L152P
c.455T>C
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