Varaico: Literature-Extracted Genetic Variants

Gene:MEPE
Variant:p.E62*

MEPE

45 papers

RefSeq Summary

This gene encodes a secreted calcium-binding phosphoprotein that belongs to the small integrin-binding ligand, N-linked glycoprotein (SIBLING) family of proteins. Members of this family are components...

Pfam Domains

Osteoregulinaa 97–256UCSCOsteoregulin

Gene Aliases

HGNC Name

matrix extracellular phosphoglycoprotein

HGNC Previous Name

matrix, extracellular phosphoglycoprotein with ASARM motif (bone)

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_020203.6
p.E62*
c.184G>T
Surrounding Variants
1 paper
NM_020203.6
p.S60T
c.178T>A
1 paper
NM_020203.6
p.E67_R68delFs
c.199_202del4
2 papers
NM_020203.6
p.K70fs
c.208_209fs
1 paper
NM_020203.6
p.E76delFs
c.228delA
1 paper
NM_020203.6
p.K81M
c.242A>T
1 paper
NM_020203.6
p.N41I
c.122A>T
1 paper
NM_020203.6
p.E39V
c.116A>T
1 paper
NM_020203.6
p.T121delFs
c.362delC
1 paper
NM_020203.6
p.F126C
c.377T>G
1 paper
NM_020203.6
p.D128D
c.384T>C
1 paper
NM_020203.6
p.G156R
c.466G>C
1 paper
NM_020203.6
p.E166insFs
c.496dupG
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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."