Varaico: Literature-Extracted Genetic Variants

Gene:AFP
Variant:p.Q550R

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.Q550R
c.1649A>G
Surrounding Variants
1 paper
NM_001134.3
p.Q550*
c.1648C>T
1 paper
NM_001134.3
p.M548delFs
c.1643_1644delTG
3 papers
NM_001134.3
p.E551Splc
c.1652+5G>A
1 paper
NM_001134.3
p.T547I
c.1640C>T
1 paper
NM_001134.3
p.Q546delFs
c.1636delC
1 paper
NM_001134.3
p.A544G
c.1631C>G
4 papers
NM_001134.3
p.C538Y
c.1613G>A
1 paper
NM_001134.3
p.D536delFs
c.1608delT
1 paper
NM_001134.3
p.K535_D536del2
c.1603_1607del6
1 paper
NM_001134.3
p.K530M
c.1589A>T
1 paper
NM_001134.3
p.D529E
c.1587C>A
1 paper
NM_001134.3
p.D529E
c.1587C>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."