Varaico: Literature-Extracted Genetic Variants

Gene:AFP
Variant:p.L218L

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.L218L
c.654G>A
Surrounding Variants
1 paper
NM_001134.3
p.S216G
c.646A>G
1 paper
NM_001134.3
p.H222Y
c.664C>T
1 paper
NM_001134.3
p.C224Y
c.671G>A
2 papers
NM_001134.3
p.L213I
c.637T>A
1 paper
NM_001134.3
p.A225T
c.673G>A
1 paper
NM_001134.3
p.F230_G231insFs
c.690_691insT
1 paper
NM_001134.3
p.A237T
c.709G>A
1 paper
NM_001134.3
p.I238L
c.712A>C
2 papers
NM_001134.3
p.I238V
c.712A>G
1 paper
NM_001134.3
p.I238L
c.712A>T
6 papers
NM_001134.3
p.I238Splc
c.713+5G>A
2 papers
NM_001134.3
p.Q203K
c.607C>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."