Varaico: Literature-Extracted Genetic Variants

Gene:BMP6
Variant:p.Q117*

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.Q117*
c.349C>T
Surrounding Variants
1 paper
NM_001718.6
p.Q118_L119insQ
c.352_356ins3
1 paper
NM_001718.6
p.Q118ins1
c.353_354insGCT
2 papers
NM_001718.6
p.Q118L
c.353A>T
1 paper
NM_001718.6
p.Q114R
c.341A>G
2 papers
NM_001718.6
p.P120T
c.358C>A
10 papers
NM_001718.6
p.Q113E
c.337C>G
1 paper
NM_001718.6
p.R121C
c.361C>T
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
1 paper
NM_001718.6
p.E112_Q113del2
c.334_338del6
1 paper
NM_001718.6
p.P124L
c.371C>T
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