Varaico: Literature-Extracted Genetic Variants

Gene:MGP
Variant:p.K53E

MGP

75 papers

RefSeq Summary

This gene encodes a member of the osteocalcin/matrix Gla family of proteins. The encoded vitamin K-dependent protein is secreted by chondrocytes and vascular smooth muscle cells, and functions as a ph...

Pfam Domains

BGLAP_Caa 64–100UCSCOsteocalcin, C-terminal domain
BGLAP_Caa 64–100UCSCOsteocalcin, C-terminal domain

Gene Aliases

HGNC Name

matrix Gla protein

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000900.5
p.K53E
c.157A>G
Surrounding Variants
1 paper
NM_000900.5
p.R51I
c.152G>T
1 paper
NM_000900.5
p.W50L
c.149G>T
1 paper
NM_000900.5
p.E56A
c.167A>C
1 paper
NM_000900.5
p.R49T
c.146G>C
10 papers
NM_000900.5
p.P46P
c.138T>C
4 papers
NM_000900.5
p.F43I
c.127T>A
1 paper
NM_000900.5
p.A40V
c.119C>T
1 paper
NM_000900.5
p.A40T
c.118G>A
1 paper
NM_000900.5
p.R37M
c.110G>T
1 paper
NM_000900.5
p.P33S
c.97C>T
1 paper
NM_000900.5
p.R59G
c.175C>G
2 papers
NM_000900.5
p.E60*
c.178G>T
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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."