Varaico: Literature-Extracted Genetic Variants

Gene:GDF2
Variant:p.G410W

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.G410W
c.1228G>T
Surrounding Variants
1 paper
NM_016204.4
p.G410R
c.1228G>A
1 paper
NM_016204.4
p.G410R
c.1228G>C
1 paper
NM_016204.4
p.D407E
c.1221T>G
4 papers
NM_016204.4
p.T413N
c.1238C>A
1 paper
NM_016204.4
p.K406K
c.1218G>A
3 papers
NM_016204.4
p.V403I
c.1207G>A
1 paper
NM_016204.4
p.I401T
c.1202T>C
1 paper
NM_016204.4
p.P400H
c.1199C>A
1 paper
NM_016204.4
p.M421L
c.1261A>C
1 paper
NM_016204.4
p.M421L
c.1261A>T
1 paper
NM_016204.4
p.S399delFs
c.1195delA
1 paper
NM_016204.4
p.M421I
c.1263G>A
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