Varaico: Literature-Extracted Genetic Variants

Gene:GDF2
Variant:p.M89V

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
4 papers
NM_016204.4
p.M89V
c.265A>G
Surrounding Variants
2 papers
NM_016204.4
p.Y88C
c.263A>G
1 paper
NM_016204.4
p.Q87_Y88delFs
c.261_262delGT
1 paper
NM_016204.4
p.Q87*
c.259C>T
1 paper
NM_016204.4
p.L92delFs
c.274delC
6 papers
NM_016204.4
p.P85L
c.254C>T
1 paper
NM_016204.4
p.Y93_N94insT
c.277_281ins3
1 paper
NM_016204.4
p.N94fs
c.280_281fs
1 paper
NM_016204.4
p.R82G
c.244A>G
1 paper
NM_016204.4
p.T81T
c.243C>A
1 paper
NM_016204.4
p.Y96*
c.288C>A
1 paper
NM_016204.4
p.T81S
c.242C>G
1 paper
NM_016204.4
p.Y96*
c.288C>G
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