Varaico: Literature-Extracted Genetic Variants

Gene:AHSG
Variant:p.G287R

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
Selected Variant
1 paper
NM_001622.4
p.G287R
c.859G>C
Surrounding Variants
1 paper
NM_001622.4
p.G287R
c.859G>A
1 paper
NM_001622.4
p.A285V
c.854C>T
1 paper
NM_001622.4
p.P289T
c.865C>A
2 papers
NM_001622.4
p.G284G
c.852C>T
1 paper
NM_001622.4
p.G284A
c.851G>C
1 paper
NM_001622.4
p.P281P
c.843T>A
1 paper
NM_001622.4
p.P281S
c.841C>T
1 paper
NM_001622.4
p.S293L
c.878C>T
1 paper
NM_001622.4
p.P278L
c.833C>T
3 papers
NM_001622.4
p.D276N
c.826G>A
1 paper
NM_001622.4
p.D274Y
c.820G>T
3 papers
NM_001622.4
p.T270T
c.810A>C
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