Varaico: Literature-Extracted Genetic Variants

Gene:AHSG
Variant:p.E39D

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.E39D
c.117A>T
Surrounding Variants
1 paper
NM_001622.4
p.E39D
c.117A>C
1 paper
NM_001622.4
p.A40T
c.118G>A
1 paper
NM_001622.4
p.A40E
c.119C>A
1 paper
NM_001622.4
p.A41P
c.121G>C
1 paper
NM_001622.4
p.T37S
c.109A>T
1 paper
NM_001622.4
p.P35P
c.105A>G
1 paper
NM_001622.4
p.D33G
c.98A>G
1 paper
NM_001622.4
p.D33N
c.97G>A
1 paper
NM_001622.4
p.Q29L
c.86A>T
1 paper
NM_001622.4
p.Y27F
c.80A>T
1 paper
NM_001622.4
p.L52insFs
c.155_156insG
1 paper
NM_001622.4
p.Y56C
c.167A>G
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