Varaico: Literature-Extracted Genetic Variants

Gene:GDF2
Variant:p.M1insFs

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.M1insFs
c.1_2insA
Surrounding Variants
2 papers
NM_016204.4
p.M1insFs
c.2_3insT
1 paper
NM_016204.4
p.M1Fs
c.2delinsAGFs
1 paper
NM_016204.4
p.M1I
c.3G>A
1 paper
NM_016204.4
p.M1I
c.3G>C
1 paper
NM_016204.4
p.M1I
c.3G>T
1 paper
NM_016204.4
p.C2R
c.4T>C
1 paper
NM_016204.4
p.P3S
c.7C>T
1 paper
NM_016204.4
p.V8V
c.24G>A
1 paper
NM_016204.4
p.L12V
c.34C>G
1 paper
NM_016204.4
p.L13P
c.38T>C
1 paper
NM_016204.4
p.S14C
c.41C>G
1 paper
NM_016204.4
p.S14F
c.41C>T
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