Varaico: Literature-Extracted Genetic Variants

Gene:ASGR2
Variant:p.L127L

ASGR2

26 papers

RefSeq Summary

This gene encodes a subunit of the asialoglycoprotein receptor. This receptor is a transmembrane protein that plays a critical role in serum glycoprotein homeostasis by mediating the endocytosis and l...

Pfam Domains

Lectin_Naa 4–162UCSCHepatic lectin, N-terminal domain
Lectin_Caa 189–297UCSCLectin C-type domain

Gene Aliases

HGNC Name

asialoglycoprotein receptor 2

HGNC Alias Symbol

CLEC4H2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001201352.2
p.L127L
c.381G>C
Surrounding Variants
1 paper
NM_001201352.2
p.L127P
c.380T>C
1 paper
NM_001201352.2
p.L134R
c.401T>G
1 paper
NM_001201352.2
p.D137A
c.410A>C
1 paper
NM_001201352.2
p.S101N
c.302G>A
1 paper
NM_001201352.2
p.E87K
c.259G>A
1 paper
NM_001201352.2
p.A82T
c.244G>A
1 paper
NM_001201352.2
p.E178*
c.532G>T
1 paper
NM_001201352.2
p.G78V
c.233G>T
1 paper
NM_001201352.2
p.L69L
c.205C>T
1 paper
NM_001201352.2
p.A63T
c.187G>A
1 paper
NM_001201352.2
p.P44L
c.131C>T
1 paper
NM_001201352.2
p.G42Splc
c.125-47G>A
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