Varaico: Literature-Extracted Genetic Variants

Gene:AFP
Variant:p.P495L

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.P495L
c.1484C>T
Surrounding Variants
1 paper
NM_001134.3
p.G496G
c.1488T>C
1 paper
NM_001134.3
p.Q499K
c.1495C>A
1 paper
NM_001134.3
p.T491_N494del0
c.1471_1482del12
1 paper
NM_001134.3
p.T502N
c.1505C>A
2 papers
NM_001134.3
p.R487K
c.1460G>A
1 paper
NM_001134.3
p.S503_S504insFs
c.1509_1510insG
1 paper
NM_001134.3
p.A506A
c.1518C>T
1 paper
NM_001134.3
p.I480N
c.1439T>A
1 paper
NM_001134.3
p.V516A
c.1547T>C
1 paper
NM_001134.3
p.P523fs
c.1567_1568fs
1 paper
NM_001134.3
p.P524L
c.1571C>T
1 paper
NM_001134.3
p.D529E
c.1587C>A
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