Varaico: Literature-Extracted Genetic Variants

Gene:CD68
Variant:p.A252T

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.A252T
c.754G>A
Surrounding Variants
2 papers
NM_001251.3
p.Q254K
c.760C>A
1 paper
NM_001251.3
p.F249L
c.745T>C
1 paper
NM_001251.3
p.F249fs
c.745_746fs
1 paper
NM_001251.3
p.V247_S248insFs
c.741_742insA
1 paper
NM_001251.3
p.V247M
c.739G>A
1 paper
NM_001251.3
p.V236V
c.708C>T
1 paper
NM_001251.3
p.V235fs
c.703_704fs
1 paper
NM_001251.3
p.K234_V235delFs
c.702_703delGG
1 paper
NM_001251.3
p.F257S
c.770T>C
1 paper
NM_001251.3
p.S258P
c.772T>C
1 paper
NM_001251.3
p.G272V
c.815G>T
1 paper
NM_001251.3
p.S276T
c.827G>C
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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."