Varaico: Literature-Extracted Genetic Variants

Gene:CD68
Variant:p.L284F

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
2 papers
NM_001251.3
p.L284F
c.850C>T
Surrounding Variants
1 paper
NM_001251.3
p.V288insFs
c.862_863insG
1 paper
NM_001251.3
p.N279K
c.837C>A
1 paper
NM_001251.3
p.N279K
c.837C>G
1 paper
NM_001251.3
p.S276T
c.827G>C
1 paper
NM_001251.3
p.G272V
c.815G>T
1 paper
NM_001251.3
p.Q298R
c.893A>G
1 paper
NM_001251.3
p.L302P
c.905T>C
1 paper
NM_001251.3
p.H304L
c.911A>T
1 paper
NM_001251.3
p.S258P
c.772T>C
1 paper
NM_001251.3
p.F257S
c.770T>C
2 papers
NM_001251.3
p.Q254K
c.760C>A
1 paper
NM_001251.3
p.A252T
c.754G>A
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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."