Varaico: Literature-Extracted Genetic Variants

Gene:BMP6
Variant:p.R371C

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.R371C
c.1111C>T
Surrounding Variants
1 paper
NM_001718.6
p.R371R
c.1113C>T
1 paper
NM_001718.6
p.V370M
c.1108G>A
1 paper
NM_001718.6
p.V368V
c.1104G>A
1 paper
NM_001718.6
p.V368V
c.1104G>C
1 paper
NM_001718.6
p.R374T
c.1121G>C
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.S366R
c.1096A>C
2 papers
NM_001718.6
p.R379Q
c.1136G>A
1 paper
NM_001718.6
p.R381*
c.1141C>T
1 paper
NM_001718.6
p.R385H
c.1154G>A
1 paper
NM_001718.6
p.D354D
c.1062C>T
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