Varaico: Literature-Extracted Genetic Variants

Gene:ASGR1
Variant:p.W158*

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
5 papers
NM_001671.5
p.W158*
c.474G>A
Surrounding Variants
1 paper
NM_001671.5
p.N157_W158insFs
c.469_472dup4
5 papers
NM_001671.5
p.W158*
c.473G>A
1 paper
NM_001671.5
p.H161N
c.481C>A
1 paper
NM_001671.5
p.V156F
c.466G>T
1 paper
NM_001671.5
p.P155L
c.464C>T
1 paper
NM_001671.5
p.R163C
c.487C>T
1 paper
NM_001671.5
p.R163L
c.488G>T
1 paper
NM_001671.5
p.S164C
c.490A>T
1 paper
NM_001671.5
p.C153G
c.457T>G
1 paper
NM_001671.5
p.C165G
c.493T>G
1 paper
NM_001671.5
p.R151G
c.451A>G
1 paper
NM_001671.5
p.Y166Y
c.498C>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."