Varaico: Literature-Extracted Genetic Variants

Gene:AHSG
Variant:p.R317C

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
3 papers
NM_001622.4
p.R317C
c.949C>T
Surrounding Variants
4 papers
NM_001622.4
p.R317H
c.950G>A
1 paper
NM_001622.4
p.T319S
c.955A>T
1 paper
NM_001622.4
p.D315N
c.943G>A
1 paper
NM_001622.4
p.T319S
c.956C>G
1 paper
NM_001622.4
p.T319I
c.956C>T
1 paper
NM_001622.4
p.G327A
c.980G>C
1 paper
NM_001622.4
p.P305L
c.914C>T
1 paper
NM_001622.4
p.S330T
c.988T>A
1 paper
NM_001622.4
p.A303A
c.909T>C
1 paper
NM_001622.4
p.K338E
c.1012A>G
2 papers
NM_001622.4
p.R340C
c.1018C>T
1 paper
NM_001622.4
p.S293L
c.878C>T
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