Varaico: Literature-Extracted Genetic Variants

Gene:AHSG
Variant:p.E65G

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.E65G
c.194A>G
Surrounding Variants
1 paper
NM_001622.4
p.E65*
c.193G>T
1 paper
NM_001622.4
p.D64G
c.191A>G
1 paper
NM_001622.4
p.K67E
c.199A>G
1 paper
NM_001622.4
p.N61D
c.181A>G
1 paper
NM_001622.4
p.P70L
c.209C>T
1 paper
NM_001622.4
p.L60S
c.179T>C
1 paper
NM_001622.4
p.K57N
c.171A>C
1 paper
NM_001622.4
p.K57N
c.171A>T
1 paper
NM_001622.4
p.Y56C
c.167A>G
1 paper
NM_001622.4
p.Y56F
c.167A>T
1 paper
NM_001622.4
p.L52insFs
c.155_156insG
1 paper
NM_001622.4
p.A41P
c.121G>C
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