Varaico: Literature-Extracted Genetic Variants

Gene:ASGR1
Variant:p.D261E

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.D261E
c.783C>A
Surrounding Variants
1 paper
NM_001671.5
p.D261E
c.783C>G
1 paper
NM_001671.5
p.R263C
c.787C>T
1 paper
NM_001671.5
p.T259T
c.777C>T
1 paper
NM_001671.5
p.W264S
c.791G>C
1 paper
NM_001671.5
p.C269R
c.805T>C
1 paper
NM_001671.5
p.D254N
c.760G>A
1 paper
NM_001671.5
p.Q270*
c.808C>T
1 paper
NM_001671.5
p.E253A
c.758A>C
1 paper
NM_001671.5
p.E253K
c.757G>A
1 paper
NM_001671.5
p.R274L
c.821G>T
1 paper
NM_001671.5
p.W275R
c.823T>C
1 paper
NM_001671.5
p.W275R
c.823T>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."