Varaico: Literature-Extracted Genetic Variants

Gene:AFP
Variant:p.P190L

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.P190L
c.569C>T
Surrounding Variants
3 papers
NM_001134.3
p.C192Y
c.575G>A
1 paper
NM_001134.3
p.I188fs
c.562_563fs
1 paper
NM_001134.3
p.I188delFs
c.562_563delAT
1 paper
NM_001134.3
p.K187Q
c.559A>C
1 paper
NM_001134.3
p.C193W
c.579C>G
1 paper
NM_001134.3
p.D186E
c.558C>A
1 paper
NM_001134.3
p.A195V
c.584C>T
1 paper
NM_001134.3
p.E196D
c.588A>T
1 paper
NM_001134.3
p.N197Y
c.589A>T
1 paper
NM_001134.3
p.A183V
c.548C>T
1 paper
NM_001134.3
p.A183P
c.547G>C
1 paper
NM_001134.3
p.A198P
c.592G>C
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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."