Varaico: Literature-Extracted Genetic Variants

Gene:ASGR1
Variant:p.G226R

ASGR1

65 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 4–144UCSCHepatic lectin, N-terminal domain
Lectin_Caa 171–279UCSCLectin C-type domain

Gene Aliases

HGNC Name

asialoglycoprotein receptor 1

HGNC Alias Symbol

CLEC4H1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001671.5
p.G226R
c.676G>C
Surrounding Variants
2 papers
NM_001671.5
p.G226R
c.676G>A
1 paper
NM_001671.5
p.D225N
c.673G>A
1 paper
NM_001671.5
p.T227R
c.680C>G
1 paper
NM_001671.5
p.D228D
c.684C>T
1 paper
NM_001671.5
p.P220P
c.660C>T
1 paper
NM_001671.5
p.D216N
c.646G>A
1 paper
NM_001671.5
p.Q198H
c.594G>T
1 paper
NM_001671.5
p.Q198H
c.594G>C
1 paper
NM_001671.5
p.K234T
c.701A>C
1 paper
NM_001671.5
p.E197V
c.590A>T
1 paper
NM_001671.5
p.V191A
c.572T>C
1 paper
NM_001671.5
p.D242V
c.725A>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."