Varaico: Literature-Extracted Genetic Variants

Gene:GDF2
Variant:p.F135L

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.F135L
c.405C>G
Surrounding Variants
1 paper
NM_016204.4
p.F135L
c.405C>A
1 paper
NM_016204.4
p.F135L
c.403T>C
1 paper
NM_016204.4
p.I137S
c.410T>G
1 paper
NM_016204.4
p.H142Y
c.424C>T
1 paper
NM_016204.4
p.H142R
c.425A>G
4 papers
NM_016204.4
p.E143K
c.427G>A
1 paper
NM_016204.4
p.Q144*
c.430C>T
1 paper
NM_016204.4
p.F126L
c.378C>A
1 paper
NM_016204.4
p.F126L
c.378C>G
1 paper
NM_016204.4
p.F126L
c.376T>C
1 paper
NM_016204.4
p.R147*
c.439A>T
1 paper
NM_016204.4
p.E124insFs
c.371dupA
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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."