Varaico: Literature-Extracted Genetic Variants

Gene:GDF2
Variant:p.A374P

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.A374P
c.1120G>C
Surrounding Variants
1 paper
NM_016204.4
p.P370fs
c.1108_1109fs
1 paper
NM_016204.4
p.T378I
c.1133C>T
1 paper
NM_016204.4
p.T378T
c.1134C>T
1 paper
NM_016204.4
p.T369delFs
c.1107delG
1 paper
NM_016204.4
p.L379fs
c.1135_1136fs
1 paper
NM_016204.4
p.V368A
c.1103T>C
1 paper
NM_016204.4
p.D366E
c.1098C>A
1 paper
NM_016204.4
p.D366E
c.1098C>G
1 paper
NM_016204.4
p.F361C
c.1082T>G
2 papers
NM_016204.4
p.G389S
c.1165G>A
2 papers
NM_016204.4
p.K357R
c.1070A>G
1 paper
NM_016204.4
p.A391S
c.1171G>T
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