Varaico: Literature-Extracted Genetic Variants

Gene:CD68
Variant:p.L14Q

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.L14Q
c.41T>A
Surrounding Variants
1 paper
NM_001251.3
p.G9E
c.26G>A
1 paper
NM_001251.3
p.R2T
c.5G>C
2 papers
NM_001251.3
p.M1T
c.2T>C
1 paper
NM_001251.3
p.M1V
c.1A>G
1 paper
NM_001251.3
p.M1_A10delFs
c.1_28del28
1 paper
NM_001251.3
p.Q18L
c.53A>T
1 paper
NM_001251.3
p.Q18H
c.54G>T
1 paper
NM_001251.3
p.T31_L32del1
c.92_94delCTT
1 paper
NM_001251.3
p.T31S
c.92C>G
2 papers
NM_001251.3
p.L33R
c.98T>G
1 paper
NM_001251.3
p.P34S
c.100C>T
1 paper
NM_001251.3
p.S35F
c.104C>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."