Varaico: Literature-Extracted Genetic Variants

Gene:AFP
Variant:p.F575L

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.F575L
c.1725C>G
Surrounding Variants
1 paper
NM_001134.3
p.F575L
c.1725C>A
1 paper
NM_001134.3
p.F575L
c.1723T>C
1 paper
NM_001134.3
p.C583R
c.1747T>C
1 paper
NM_001134.3
p.Q584Q
c.1752A>G
1 paper
NM_001134.3
p.Q584H
c.1752A>T
2 papers
NM_001134.3
p.Q586R
c.1757A>G
32 papers
NM_001134.3
p.Q588Q
c.1764G>A
2 papers
NM_001134.3
p.Q588H
c.1764G>T
1 paper
NM_001134.3
p.P561P
c.1683A>G
1 paper
NM_001134.3
p.Q562_I563del2
c.1684_1688del6
1 paper
NM_001134.3
p.C591Y
c.1772G>A
1 paper
NM_001134.3
p.Q559Fs
c.1676_1677delinsGFs
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