Varaico: Literature-Extracted Genetic Variants

Gene:CD68
Variant:p.H92_T94del3

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.H92_T94del3
c.274_281del9
Surrounding Variants
1 paper
NM_001251.3
p.T83I
c.248C>T
1 paper
NM_001251.3
p.T83delFs
c.249delC
1 paper
NM_001251.3
p.P81R
c.242C>G
1 paper
NM_001251.3
p.P104delFs
c.310delC
1 paper
NM_001251.3
p.P104fs
c.310_311fs
1 paper
NM_001251.3
p.A77T
c.229G>A
1 paper
NM_001251.3
p.T75M
c.224C>T
1 paper
NM_001251.3
p.T120P
c.358A>C
1 paper
NM_001251.3
p.T120M
c.359C>T
1 paper
NM_001251.3
p.V121delFs
c.361delG
2 papers
NM_001251.3
p.T60A
c.178A>G
1 paper
NM_001251.3
p.S56R
c.168C>A
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