Varaico: Literature-Extracted Genetic Variants

Gene:GDF7
Variant:p.G80R

GDF7

57 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 67–241UCSCTGF-beta propeptide
TGF_betaaa 348–449UCSCTransforming growth factor beta like domain

Gene Aliases

HGNC Name

growth differentiation factor 7

HGNC Alias Symbol

BMP12

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_182828.4
p.G80R
c.238G>C
Surrounding Variants
1 paper
NM_182828.4
p.R74P
c.221G>C
2 papers
NM_182828.4
p.R74fs
c.220_221fs
2 papers
NM_182828.4
p.R74_A76delFs
c.221_227del7
1 paper
NM_182828.4
p.A73_A77del0
c.219_230del12
1 paper
NM_182828.4
p.A66A
c.198G>C
1 paper
NM_182828.4
p.S113L
c.338C>T
1 paper
NM_182828.4
p.G41_G42ins2
c.123_124ins6
3 papers
NM_182828.4
p.G41_G42ins3
c.123_124ins9
1 paper
NM_182828.4
p.G41_G42insGGG
c.121_125ins9
1 paper
NM_182828.4
p.P40A
c.118C>G
1 paper
NM_182828.4
p.G123_F124ins6
c.367_371ins18
3 papers
NM_182828.4
p.G123_F124ins9
c.367_371ins27
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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."