Varaico: Literature-Extracted Genetic Variants

Gene:AHSG
Variant:p.K131*

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.K131*
c.391A>T
Surrounding Variants
1 paper
NM_001622.4
p.Y129S
c.386A>C
1 paper
NM_001622.4
p.V127V
c.381G>A
1 paper
NM_001622.4
p.D122H
c.364G>C
1 paper
NM_001622.4
p.L119V
c.355T>G
1 paper
NM_001622.4
p.G112G
c.336A>G
1 paper
NM_001622.4
p.G112E
c.335G>A
1 paper
NM_001622.4
p.G112fs
c.334_335fs
1 paper
NM_001622.4
p.E111fs
c.331_332fs
1 paper
NM_001622.4
p.A109T
c.325G>A
1 paper
NM_001622.4
p.D137V
c.410A>T
1 paper
NM_001622.4
p.E140K
c.418G>A
2 papers
NM_001622.4
p.V142L
c.424G>C
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