Varaico: Literature-Extracted Genetic Variants

Gene:BMP6
Variant:p.L424R

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.L424R
c.1271T>G
Surrounding Variants
1 paper
NM_001718.6
p.V419M
c.1255G>A
1 paper
NM_001718.6
p.V419_F421del3
c.1255_1262del9
3 papers
NM_001718.6
p.Q427_D428Splc
c.1281+24T>C
1 paper
NM_001718.6
p.N454K
c.1362T>A
1 paper
NM_001718.6
p.N454K
c.1362T>G
1 paper
NM_001718.6
p.A455G
c.1364C>G
1 paper
NM_001718.6
p.T456I
c.1367C>T
1 paper
NM_001718.6
p.Q462K
c.1384C>A
1 paper
NM_001718.6
p.P474P
c.1422C>T
4 papers
NM_001718.6
p.P476L
c.1427C>T
1 paper
NM_001718.6
p.A479T
c.1435G>A
2 papers
NM_001718.6
p.A479V
c.1436C>T
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