Varaico: Literature-Extracted Genetic Variants

Gene:AFP
Variant:p.Q90_L91Splc

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.Q90_L91Splc
c.271-2A>G
Surrounding Variants
1 paper
NM_001134.3
p.Q90_L91Splc
c.271-15A>G
1 paper
NM_001134.3
p.L98I
c.292C>A
1 paper
NM_001134.3
p.E103Q
c.307G>C
1 paper
NM_001134.3
p.Y108Y
c.324C>T
1 paper
NM_001134.3
p.G109R
c.325G>A
1 paper
NM_001134.3
p.S111*
c.332C>A
1 paper
NM_001134.3
p.S111*
c.332C>G
1 paper
NM_001134.3
p.C113R
c.337T>C
1 paper
NM_001134.3
p.C124insFs
c.370dupT
1 paper
NM_001134.3
p.L126F
c.376C>T
1 paper
NM_001134.3
p.L126L
c.378T>A
1 paper
NM_001134.3
p.A127V
c.380C>T
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