Varaico: Literature-Extracted Genetic Variants

Gene:BGLAP

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
1–12 of 50 variants
3 papers
NM_199173.6
p.Y52*
c.156C>A
3 papers
NM_199173.6
p.Y52*
c.156C>G
2 papers
NM_199173.6
p.T5I
c.14C>T
2 papers
NM_199173.6
p.L67Q
c.200T>A
2 papers
NM_199173.6
p.C74*
c.222T>A
2 papers
NM_199173.6
p.R94Q
c.281G>A
1 paper
NM_199173.6
p.M1K
c.2T>A
1 paper
NM_199173.6
p.R2R
c.4A>C
1 paper
NM_199173.6
p.A3T
c.7G>A
1 paper
NM_199173.6
p.A3delFs
c.8delC
1 paper
NM_199173.6
p.L9R
c.26T>G
1 paper
NM_199173.6
p.L10S
c.29T>C
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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."