Varaico: Literature-Extracted Genetic Variants

Gene:AHSG
Variant:p.L10P

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.L10P
c.29T>C
Surrounding Variants
1 paper
NM_001622.4
p.L10V
c.28C>G
1 paper
NM_001622.4
p.L10F
c.28C>T
1 paper
NM_001622.4
p.L10L
c.30T>C
1 paper
NM_001622.4
p.L10_Q12ins1
c.28_36dup9
2 papers
NM_001622.4
p.L13F
c.37C>T
2 papers
NM_001622.4
p.L13L
c.39C>G
1 paper
NM_001622.4
p.L6L
c.18G>A
1 paper
NM_001622.4
p.L6Q
c.17T>A
1 paper
NM_001622.4
p.L6P
c.17T>C
1 paper
NM_001622.4
p.L6V
c.16C>G
1 paper
NM_001622.4
p.G15R
c.43G>C
1 paper
NM_001622.4
p.V5I
c.13G>A
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