Varaico: Literature-Extracted Genetic Variants

Gene:CD68
Variant:p.G188E

CD68

254 papers

RefSeq Summary

This gene encodes a 110-kD transmembrane glycoprotein that is highly expressed by human monocytes and tissue macrophages. It is a member of the lysosomal/endosomal-associated membrane glycoprotein (LA...

Pfam Domains

Lamp2-like_luminalaa 144–315UCSCLysosome-associated membrane glycoprotein 2-like, luminal domains

Gene Aliases

HGNC Name

CD68 molecule

HGNC Alias Symbols

SCARD1; GP110; DKFZp686M18236; LAMP4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001251.3
p.G188E
c.563G>A
Surrounding Variants
1 paper
NM_001251.3
p.G188R
c.562G>A
1 paper
NM_001251.3
p.G188R
c.562G>C
1 paper
NM_001251.3
p.V180I
c.538G>A
1 paper
NM_001251.3
p.S153S
c.459C>T
1 paper
NM_001251.3
p.H139R
c.416A>G
1 paper
NM_001251.3
p.V195V
c.585A>G
1 paper
NM_001251.3
p.N197D
c.589A>G
1 paper
NM_001251.3
p.T130A
c.388A>G
1 paper
NM_001251.3
p.T201S
c.601A>T
1 paper
NM_001251.3
p.T201S
c.602C>G
1 paper
NM_001251.3
p.T128S
c.382A>T
1 paper
NM_001251.3
p.S127R
c.381C>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."