Varaico: Literature-Extracted Genetic Variants

Gene:BGLAP
Variant:p.R94Q

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
2 papers
NM_199173.6
p.R94Q
c.281G>A
Surrounding Variants
1 paper
NM_199173.6
p.R94G
c.280C>G
1 paper
NM_199173.6
p.R94R
c.282G>A
1 paper
NM_199173.6
p.R94R
c.282G>T
1 paper
NM_199173.6
p.F96S
c.287T>C
1 paper
NM_199173.6
p.E91*
c.271G>T
1 paper
NM_199173.6
p.G98S
c.292G>A
1 paper
NM_199173.6
p.G98D
c.293G>A
1 paper
NM_199173.6
p.D85ins1
c.254_255insACC
1 paper
NM_199173.6
p.D85N
c.253G>A
1 paper
NM_199173.6
p.E82delFs
c.246delG
1 paper
NM_199173.6
p.D81V
c.242A>T
1 paper
NM_199173.6
p.E75_L76delFs
c.224_227del4
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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."