Varaico: Literature-Extracted Genetic Variants

Gene:FOLR1
Variant:p.R204*

FOLR1

203 papers

RefSeq Summary

The protein encoded by this gene is a member of the folate receptor family. Members of this gene family bind folic acid and its reduced derivatives, and transport 5-methyltetrahydrofolate into cells. ...

Pfam Domains

Folate_recaa 36–211UCSCFolate receptor family

Gene Aliases

HGNC Name

folate receptor alpha

HGNC Alias Symbol

FRα

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
14 papers
NM_016729.3
p.R204*
c.610C>T
Surrounding Variants
1 paper
NM_016729.3
p.Y202*
c.606C>A
1 paper
NM_016729.3
p.Y202*
c.606C>G
1 paper
NM_016729.3
p.R208C
c.622C>T
1 paper
NM_016729.3
p.C209C
c.627C>T
1 paper
NM_016729.3
p.Y197*
c.591C>A
1 paper
NM_016729.3
p.Y197*
c.591C>G
1 paper
NM_016729.3
p.M212L
c.634A>T
1 paper
NM_016729.3
p.H195delFs
c.583_584delCA
1 paper
NM_016729.3
p.L188V
c.562C>G
1 paper
NM_016729.3
p.L188L
c.562C>T
2 papers
NM_016729.3
p.P221L
c.662C>T
10 papers
NM_016729.3
p.N222S
c.665A>G
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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."