Varaico: Literature-Extracted Genetic Variants

Gene:A1BG

A1BG

42 papers

RefSeq Summary

The protein encoded by this gene is a plasma glycoprotein of unknown function. The protein shows sequence similarity to the variable regions of some immunoglobulin supergene family member proteins. [p...

Pfam Domains

Ig_2aa 209–301UCSCImmunoglobulin domain

Gene Aliases

HGNC Name

alpha-1-B glycoprotein

Papers
RefSeq ID
Protein change
DNA change
1–12 of 45 variants
4 papers
NM_130786.4
p.H52R
c.155A>G
2 papers
NM_130786.4
p.T278P
c.832A>C
1 paper
NM_130786.4
p.M1delFs
c.3delC
1 paper
NM_130786.4
p.G16S
c.46G>A
1 paper
NM_130786.4
p.T27M
c.80C>T
1 paper
NM_130786.4
p.H52Y
c.154C>T
1 paper
NM_130786.4
p.L53P
c.158T>C
1 paper
NM_130786.4
p.C93*
c.279C>A
1 paper
NM_130786.4
p.W101*
c.302G>A
1 paper
NM_130786.4
p.W101*
c.303G>A
1 paper
NM_130786.4
p.G112E
c.335G>A
1 paper
NM_130786.4
p.L149M
c.445C>A
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