Varaico: Literature-Extracted Genetic Variants

Gene:ASGR1
Variant:p.L134M

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.L134M
c.400C>A
Surrounding Variants
1 paper
NM_001671.5
p.V131V
c.393G>A
1 paper
NM_001671.5
p.S138R
c.412A>C
1 paper
NM_001671.5
p.S138R
c.414C>G
1 paper
NM_001671.5
p.S138R
c.414C>A
1 paper
NM_001671.5
p.C139G
c.415T>G
2 papers
NM_001671.5
p.V127L
c.379G>T
2 papers
NM_001671.5
p.V127L
c.379G>C
1 paper
NM_001671.5
p.H126Q
c.378C>G
1 paper
NM_001671.5
p.H126Q
c.378C>A
1 paper
NM_001671.5
p.L123delFs
c.367delG
1 paper
NM_001671.5
p.S122R
c.366C>G
1 paper
NM_001671.5
p.S122R
c.366C>A
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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."