Varaico: Literature-Extracted Genetic Variants

Gene:AHSG
Variant:p.M248T

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
11 papers
NM_001622.4
p.M248T
c.743T>C
Surrounding Variants
1 paper
NM_001622.4
p.V249M
c.745G>A
1 paper
NM_001622.4
p.V249A
c.746T>C
1 paper
NM_001622.4
p.T246S
c.737C>G
1 paper
NM_001622.4
p.T246S
c.736A>T
1 paper
NM_001622.4
p.T252T
c.756A>T
1 paper
NM_001622.4
p.A244_V245insTG
c.730_734ins6
1 paper
NM_001622.4
p.A244S
c.730G>T
1 paper
NM_001622.4
p.E242D
c.726G>T
1 paper
NM_001622.4
p.G239A
c.716G>C
1 paper
NM_001622.4
p.E236D
c.708G>C
1 paper
NM_001622.4
p.E236D
c.708G>T
1 paper
NM_001622.4
p.E236K
c.706G>A
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