Varaico: Literature-Extracted Genetic Variants

Gene:AHSG
Variant:p.E79D

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.E79D
c.237G>T
Surrounding Variants
1 paper
NM_001622.4
p.E79D
c.237G>C
1 paper
NM_001622.4
p.I80V
c.238A>G
1 paper
NM_001622.4
p.I82insFs
c.244_245insTG
1 paper
NM_001622.4
p.L77L
c.229C>T
1 paper
NM_001622.4
p.E76V
c.227A>T
1 paper
NM_001622.4
p.E86K
c.256G>A
1 paper
NM_001622.4
p.T88A
c.262A>G
2 papers
NM_001622.4
p.L92L
c.276G>T
1 paper
NM_001622.4
p.K106N
c.318G>C
1 paper
NM_001622.4
p.H108_A109Splc
c.324+1G>A
1 paper
NM_001622.4
p.A109T
c.325G>A
1 paper
NM_001622.4
p.E111fs
c.331_332fs
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