Varaico: Literature-Extracted Genetic Variants

Gene:GDF2
Variant:p.S101L

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.S101L
c.302C>T
Surrounding Variants
1 paper
NM_016204.4
p.S101W
c.302C>G
1 paper
NM_016204.4
p.P104L
c.311C>T
1 paper
NM_016204.4
p.A105delFs
c.314delC
1 paper
NM_016204.4
p.Y96*
c.288C>A
1 paper
NM_016204.4
p.Y96*
c.288C>G
1 paper
NM_016204.4
p.N94fs
c.280_281fs
2 papers
NM_016204.4
p.V109L
c.325G>C
2 papers
NM_016204.4
p.V109L
c.325G>T
1 paper
NM_016204.4
p.V109A
c.326T>C
1 paper
NM_016204.4
p.Y93_N94insT
c.277_281ins3
10 papers
NM_016204.4
p.R110W
c.328C>T
3 papers
NM_016204.4
p.R110Q
c.329G>A
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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."