Varaico: Literature-Extracted Genetic Variants

Gene:GDF2
Variant:p.S422R

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.S422R
c.1266C>A
Surrounding Variants
1 paper
NM_016204.4
p.S422R
c.1266C>G
3 papers
NM_016204.4
p.V423M
c.1267G>A
1 paper
NM_016204.4
p.S422R
c.1264A>C
1 paper
NM_016204.4
p.M421I
c.1263G>A
1 paper
NM_016204.4
p.M421I
c.1263G>C
1 paper
NM_016204.4
p.M421I
c.1263G>T
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.C426R
c.1276T>C
4 papers
NM_016204.4
p.C428R
c.1282T>C
1 paper
NM_016204.4
p.R429M
c.1286G>T
4 papers
NM_016204.4
p.T413N
c.1238C>A
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