Varaico: Literature-Extracted Genetic Variants

Gene:A1BG
Variant:p.V233L

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
Selected Variant
1 paper
NM_130786.4
p.V233L
c.697G>T
Surrounding Variants
1 paper
NM_130786.4
p.V233L
c.697G>C
1 paper
NM_130786.4
p.S237R
c.711T>G
1 paper
NM_130786.4
p.H215_P224delFs
c.645_670del26
1 paper
NM_130786.4
p.G246R
c.736G>C
1 paper
NM_130786.4
p.G246R
c.736G>A
1 paper
NM_130786.4
p.H215Y
c.643C>T
1 paper
NM_130786.4
p.L251fs
c.751_752fs
1 paper
NM_130786.4
p.R254fs
c.760_761fs
1 paper
NM_130786.4
p.R261L
c.782G>T
1 paper
NM_130786.4
p.R261H
c.782G>A
1 paper
NM_130786.4
p.A268T
c.802G>A
2 papers
NM_130786.4
p.T278P
c.832A>C
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