Varaico: Literature-Extracted Genetic Variants

Gene:AFP
Variant:p.L179delFs

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.L179delFs
c.535_536delCT
Surrounding Variants
1 paper
NM_001134.3
p.L180F
c.538C>T
1 paper
NM_001134.3
p.P176H
c.527C>A
6 papers
NM_001134.3
p.W181*
c.542G>A
6 papers
NM_001134.3
p.W181*
c.543G>A
1 paper
NM_001134.3
p.A183P
c.547G>C
1 paper
NM_001134.3
p.A183V
c.548C>T
1 paper
NM_001134.3
p.L173Q
c.518T>A
1 paper
NM_001134.3
p.P171_L179del9
c.511_536del27
1 paper
NM_001134.3
p.D186E
c.558C>A
1 paper
NM_001134.3
p.K187Q
c.559A>C
1 paper
NM_001134.3
p.I188delFs
c.562_563delAT
1 paper
NM_001134.3
p.I188fs
c.562_563fs
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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."