Varaico: Literature-Extracted Genetic Variants

Gene:BMP6
Variant:p.D354D

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.D354D
c.1062C>T
Surrounding Variants
1 paper
NM_001718.6
p.Y353_D354insGCT
c.1057_1061ins9
1 paper
NM_001718.6
p.P352L
c.1055C>T
2 papers
NM_001718.6
p.G351A
c.1052G>C
1 paper
NM_001718.6
p.D350Y
c.1048G>T
1 paper
NM_001718.6
p.A344E
c.1031C>A
1 paper
NM_001718.6
p.A343A
c.1029C>T
1 paper
NM_001718.6
p.S366R
c.1096A>C
2 papers
NM_001718.6
p.A343D
c.1028C>A
1 paper
NM_001718.6
p.S366R
c.1098T>A
1 paper
NM_001718.6
p.S366R
c.1098T>G
1 paper
NM_001718.6
p.R342P
c.1025G>C
1 paper
NM_001718.6
p.R342*
c.1024C>T
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