Varaico: Literature-Extracted Genetic Variants

Gene:FOLR1
Variant:p.L113*

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
1 paper
NM_016729.3
p.L113*
c.338T>A
Surrounding Variants
1 paper
NM_016729.3
p.N112T
c.335A>C
1 paper
NM_016729.3
p.P111H
c.332C>A
1 paper
NM_016729.3
p.P111R
c.332C>G
1 paper
NM_016729.3
p.P115L
c.344C>T
1 paper
NM_016729.3
p.P111S
c.331C>T
2 papers
NM_016729.3
p.W116R
c.346T>C
2 papers
NM_016729.3
p.C109*
c.327C>A
1 paper
NM_016729.3
p.C109_S110delins
c.327_328delinsAC
15 papers
NM_016729.3
p.Q118*
c.352C>T
1 paper
NM_016729.3
p.E108K
c.322G>A
5 papers
NM_016729.3
p.E108*
c.322G>T
1 paper
NM_016729.3
p.L106P
c.317T>C
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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."