Varaico: Literature-Extracted Genetic Variants

Gene:BMP6
Variant:p.P95L

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.P95L
c.284C>T
Surrounding Variants
7 papers
NM_001718.6
p.P95S
c.283C>T
13 papers
NM_001718.6
p.L96P
c.287T>C
1 paper
NM_001718.6
p.R94W
c.280C>T
1 paper
NM_001718.6
p.P93S
c.277C>T
1 paper
NM_001718.6
p.G88G
c.264G>C
1 paper
NM_001718.6
p.P104S
c.310C>T
1 paper
NM_001718.6
p.Q80E
c.238C>G
1 paper
NM_001718.6
p.E112_Q113del2
c.334_338del6
5 papers
NM_001718.6
p.E112Q
c.334G>C
3 papers
NM_001718.6
p.Q118_L119ins0
c.353_355dupAGC
2 papers
NM_001718.6
p.E112_Q113del1
c.335_337delAGC
10 papers
NM_001718.6
p.Q113E
c.337C>G
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."