Varaico: Literature-Extracted Genetic Variants

Gene:AHSG
Variant:p.E184D

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.E184D
c.552A>C
Surrounding Variants
1 paper
NM_001622.4
p.E184D
c.552A>T
1 paper
NM_001354571.2
p.Q182*
c.544C>T
1 paper
NM_001622.4
p.N179S
c.536A>G
1 paper
NM_001622.4
p.L190F
c.568C>T
1 paper
NM_001622.4
p.S178Y
c.533C>A
1 paper
NM_001622.4
p.N176D
c.526A>G
1 paper
NM_001622.4
p.N172D
c.514A>G
1 paper
NM_001622.4
p.A167G
c.500C>G
1 paper
NM_001622.4
p.A167T
c.499G>A
1 paper
NM_001622.4
p.A164T
c.490G>A
1 paper
NM_001622.4
p.H162L
c.485A>T
1 paper
NM_001622.4
p.T158delFs
c.474delC
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