Varaico: Literature-Extracted Genetic Variants

Gene:GDF2
Variant:p.I197T

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.I197T
c.590T>C
Surrounding Variants
1 paper
NM_016204.4
p.I197_G201delFs
c.590_602del13
1 paper
NM_016204.4
p.Q198insFs
c.592dupC
1 paper
NM_016204.4
p.Q198delFs
c.593delA
1 paper
NM_016204.4
p.Q198H
c.594G>C
1 paper
NM_016204.4
p.Q198H
c.594G>T
1 paper
NM_016204.4
p.L205delFs
c.613delT
1 paper
NM_016204.4
p.L205*
c.614T>A
1 paper
NM_016204.4
p.V207insFs
c.619dupG
1 paper
NM_016204.4
p.V211M
c.631G>A
1 paper
NM_016204.4
p.R213C
c.637C>T
1 paper
NM_016204.4
p.R213L
c.638G>T
1 paper
NM_016204.4
p.W214_V215delFs
c.640_644del5
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."