Varaico: Literature-Extracted Genetic Variants

Gene:AHSG

AHSG

105 papers

RefSeq Summary

The protein encoded by this gene is a negatively-charged serum glycoprotein that is synthesized by hepatocytes. The encoded protein consists of two polypeptide chains, which are both cleaved from a pr...

Pfam Domains

Cystatinaa 150–240UCSCCystatin domain

Gene Aliases

HGNC Name

alpha 2-HS glycoprotein

HGNC Alias Symbols

FETUA; A2HS; HSGA

Papers
RefSeq ID
Protein change
DNA change
1–12 of 149 variants
11 papers
NM_001622.4
p.M248T
c.743T>C
11 papers
NM_001622.4
p.S256T
c.767G>C
5 papers
NM_001622.4
p.K2*
c.4A>T
4 papers
NM_001622.4
p.R317H
c.950G>A
3 papers
NM_001622.4
p.T270T
c.810A>C
3 papers
NM_001622.4
p.D276N
c.826G>A
3 papers
NM_001622.4
p.R317C
c.949C>T
2 papers
NM_001622.4
p.L13F
c.37C>T
2 papers
NM_001622.4
p.L13L
c.39C>G
2 papers
NM_001622.4
p.L92L
c.276G>T
2 papers
NM_001622.4
p.V142L
c.424G>C
2 papers
NM_001622.4
p.V142L
c.424G>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."