Varaico: Literature-Extracted Genetic Variants

Gene:ASGR1
Variant:p.T76K

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.T76K
c.227C>A
Surrounding Variants
1 paper
NM_001671.5
p.T81P
c.241A>C
1 paper
NM_001671.5
p.R71R
c.211C>A
1 paper
NM_001671.5
p.S83R
c.247A>C
1 paper
NM_001671.5
p.S83R
c.249C>G
1 paper
NM_001671.5
p.S83R
c.249C>A
1 paper
NM_001671.5
p.T84M
c.251C>T
1 paper
NM_001671.5
p.E85K
c.253G>A
1 paper
NM_001671.5
p.S64Y
c.191C>A
1 paper
NM_001671.5
p.N63K
c.189C>G
1 paper
NM_001671.5
p.N63K
c.189C>A
2 papers
NM_001671.5
p.K89K
c.267G>A
1 paper
NM_001671.5
p.G90delFs
c.269delC
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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."