Varaico: Literature-Extracted Genetic Variants

Gene:BGLAP
Variant:p.C74*

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.C74*
c.222T>A
Surrounding Variants
1 paper
NM_199173.6
p.E75_L76delFs
c.224_227del4
1 paper
NM_199173.6
p.V73V
c.219G>T
1 paper
NM_199173.6
p.R70K
c.209G>A
1 paper
NM_199173.6
p.D81V
c.242A>T
2 papers
NM_199173.6
p.L67Q
c.200T>A
1 paper
NM_199173.6
p.E82delFs
c.246delG
1 paper
NM_199173.6
p.L67L
c.199C>T
1 paper
NM_199173.6
p.D65H
c.193G>C
1 paper
NM_199173.6
p.D85N
c.253G>A
1 paper
NM_199173.6
p.D85ins1
c.254_255insACC
1 paper
NM_199173.6
p.P62S
c.184C>T
1 paper
NM_199173.6
p.P60A
c.178C>G
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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."