Varaico: Literature-Extracted Genetic Variants

Gene:AFP
Variant:p.S18C

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.S18C
c.53C>G
Surrounding Variants
1 paper
NM_001134.3
p.S18S
c.54C>T
1 paper
NM_001134.3
p.S18del1
c.52_53delTCC
1 paper
NM_001134.3
p.S18_R19del2
c.52_56del6
1 paper
NM_001134.3
p.T20_R23delFs
c.58_68del11
1 paper
NM_001134.3
p.E17K
c.49G>A
1 paper
NM_001134.3
p.T16A
c.46A>G
1 paper
NM_001134.3
p.L21V
c.61C>G
1 paper
NM_001134.3
p.T16insFs
c.46dupA
3 papers
NM_001134.3
p.N14S
c.41A>G
1 paper
NM_001134.3
p.N14D
c.40A>G
1 paper
NM_001134.3
p.L12V
c.34C>G
1 paper
NM_001134.3
p.F11F
c.33C>T
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