Varaico: Literature-Extracted Genetic Variants

Gene:BGLAP
Variant:p.R48K

BGLAP

135 papers

RefSeq Summary

This gene encodes a highly abundant bone protein secreted by osteoblasts that regulates bone remodeling and energy metabolism. The encoded protein contains a Gla (gamma carboxyglutamate) domain, which...

Pfam Domains

BGLAP_Caa 65–100UCSCOsteocalcin, C-terminal domain

Gene Aliases

HGNC Name

bone gamma-carboxyglutamate protein

HGNC Alias Symbols

OCN; BGP

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_199173.6
p.R48K
c.143G>A
Surrounding Variants
1 paper
NM_199173.6
p.V45A
c.134T>C
3 papers
NM_199173.6
p.Y52*
c.156C>A
3 papers
NM_199173.6
p.Y52*
c.156C>G
1 paper
NM_199173.6
p.S43S
c.129C>T
1 paper
NM_199173.6
p.Q40K
c.118C>A
1 paper
NM_199173.6
p.K39M
c.116A>T
1 paper
NM_199173.6
p.S38Y
c.113C>A
1 paper
NM_199173.6
p.G58V
c.173G>T
1 paper
NM_199173.6
p.G58Splc
c.173+2T>C
1 paper
NM_199173.6
p.A35T
c.103G>A
1 paper
NM_199173.6
p.G33D
c.98G>A
1 paper
NM_199173.6
p.S31insFs
c.91_92insC
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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."