Varaico: Literature-Extracted Genetic Variants

Gene:BMP6
Variant:p.G3A

BMP6

169 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 61–362UCSCTGF-beta propeptide
TGF_betaaa 411–512UCSCTransforming growth factor beta like domain

Gene Aliases

HGNC Name

bone morphogenetic protein 6

HGNC Previous Symbol

VGR

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001718.6
p.G3A
c.8G>C
Surrounding Variants
1 paper
NM_001718.6
p.M1I
c.3G>A
1 paper
NM_001718.6
p.W14*
c.41G>A
1 paper
NM_001718.6
p.L17M
c.49C>A
10 papers
NM_001718.6
p.R28Q
c.83G>A
1 paper
NM_001718.6
p.A36del1
c.106_108delGCC
1 paper
NM_001718.6
p.A38delFs
c.112_113delGC
1 paper
NM_001718.6
p.D46E
c.138C>A
1 paper
NM_001718.6
p.G48R
c.142G>A
1 paper
NM_001718.6
p.G48R
c.142G>C
1 paper
NM_001718.6
p.G48E
c.143G>A
1 paper
NM_001718.6
p.Q61*
c.181C>T
1 paper
NM_001718.6
p.L71V
c.211C>G
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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."