Varaico: Literature-Extracted Genetic Variants

Gene:AFP
Variant:p.A127V

AFP

574 papers

RefSeq Summary

This gene encodes alpha-fetoprotein, a major plasma protein produced by the yolk sac and the liver during fetal life. Alpha-fetoprotein expression in adults is often associated with hepatocarcinoma an...

Pfam Domains

Serum_albuminaa 30–202UCSCSerum albumin family
Serum_albuminaa 222–394UCSCSerum albumin family
Serum_albuminaa 414–592UCSCSerum albumin family

Gene Aliases

HGNC Name

alpha fetoprotein

HGNC Previous Symbol

HPAFP

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001134.3
p.A127V
c.380C>T
Surrounding Variants
1 paper
NM_001134.3
p.A127delFs
c.381delA
1 paper
NM_001134.3
p.L126L
c.378T>A
1 paper
NM_001134.3
p.L126F
c.376C>T
1 paper
NM_001134.3
p.K129R
c.386A>G
4 papers
NM_001134.3
p.K130M
c.389A>T
1 paper
NM_001134.3
p.P131insFs
c.392dupC
1 paper
NM_001134.3
p.C124insFs
c.370dupT
1 paper
NM_001134.3
p.P131S
c.391C>T
1 paper
NM_001134.3
p.A134V
c.401C>T
1 paper
NM_001134.3
p.I136I
c.408C>A
1 paper
NM_001134.3
p.L138H
c.413T>A
1 paper
NM_001134.3
p.Q140K
c.418C>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."