Varaico: Literature-Extracted Genetic Variants

Gene:ASGR1
Variant:p.D7insFs

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
1 paper
NM_001671.5
p.D7insFs
c.20dupA
Surrounding Variants
1 paper
NM_001671.5
p.D7N
c.19G>A
1 paper
NM_001671.5
p.Q9E
c.25C>G
1 paper
NM_001671.5
p.N13D
c.37A>G
1 paper
NM_001671.5
p.M1insFs
c.1dupA
1 paper
NM_001671.5
p.E14K
c.40G>A
1 paper
NM_001671.5
p.Q20L
c.59A>T
1 paper
NM_001671.5
p.P26S
c.76C>T
1 paper
NM_001671.5
p.L32M
c.94C>A
1 paper
NM_001671.5
p.L50H
c.149T>A
1 paper
NM_001671.5
p.V54M
c.160G>A
1 paper
NM_001671.5
p.V55V
c.165T>C
1 paper
NM_001671.5
p.C57S
c.169T>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."