Varaico: Literature-Extracted Genetic Variants

Gene:BGLAP
Variant:p.G22Splc

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.G22Splc
c.64+1G>A
Surrounding Variants
1 paper
NM_199173.6
p.L15L
c.45T>A
1 paper
NM_199173.6
p.L15L
c.45T>G
1 paper
NM_199173.6
p.A13A
c.39C>T
1 paper
NM_199173.6
p.L10S
c.29T>C
1 paper
NM_199173.6
p.L9R
c.26T>G
2 papers
NM_199173.6
p.T5I
c.14C>T
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.R2R
c.4A>C
1 paper
NM_199173.6
p.M1K
c.2T>A
1 paper
NM_199173.6
p.A23delFs
c.69delG
1 paper
NM_199173.6
p.P25fs
c.73_74fs
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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."