Varaico: Literature-Extracted Genetic Variants

Gene:GDF2
Variant:p.N224fs

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.N224fs
c.670_671fs
Surrounding Variants
1 paper
NM_016204.4
p.N224insFs
c.671dupA
1 paper
NM_016204.4
p.K225N
c.675G>C
1 paper
NM_016204.4
p.K225N
c.675G>T
1 paper
NM_016204.4
p.T229I
c.686C>T
6 papers
NM_016204.4
p.D218N
c.652G>A
1 paper
NM_016204.4
p.E231delFs
c.691delG
2 papers
NM_016204.4
p.W214*
c.642G>A
2 papers
NM_016204.4
p.W214*
c.641G>A
1 paper
NM_016204.4
p.W214R
c.640T>A
1 paper
NM_016204.4
p.W214_V215delFs
c.640_644del5
1 paper
NM_016204.4
p.R213L
c.638G>T
1 paper
NM_016204.4
p.R213C
c.637C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."