Varaico: Literature-Extracted Genetic Variants

Gene:BMP6
Variant:p.A189V

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.A189V
c.566C>T
Surrounding Variants
1 paper
NM_001718.6
p.A189fs
c.565_566fs
1 paper
NM_001718.6
p.A189delFs
c.566delC
1 paper
NM_001718.6
p.G191A
c.572G>C
1 paper
NM_001718.6
p.P199A
c.595C>G
1 paper
NM_001718.6
p.G177D
c.530G>A
1 paper
NM_001718.6
p.P175P
c.525C>G
1 paper
NM_001718.6
p.S206N
c.617G>A
1 paper
NM_001718.6
p.L209insFs
c.625_626insTG
1 paper
NM_001718.6
p.S168delFs
c.504delG
1 paper
NM_001718.6
p.A212T
c.634G>A
1 paper
NM_001718.6
p.A212V
c.635C>T
1 paper
NM_001718.6
p.M214V
c.640A>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."