Varaico: Literature-Extracted Genetic Variants

Gene:FOLR1
Variant:p.R128delFs

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.R128delFs
c.382delC
Surrounding Variants
4 papers
NM_016729.3
p.R128W
c.382C>T
3 papers
NM_016729.3
p.R128Q
c.383G>A
7 papers
NM_016729.3
p.R125L
c.374G>T
7 papers
NM_016729.3
p.R125C
c.373C>T
1 paper
NM_016729.3
p.W124_K126del3
c.370_377del9
1 paper
NM_016729.3
p.V132L
c.394G>C
7 papers
NM_016729.3
p.P133H
c.398C>A
1 paper
NM_016729.3
p.Q122*
c.364C>T
1 paper
NM_016729.3
p.E140delFs
c.420delG
4 papers
NM_016729.3
p.W143R
c.427T>A
3 papers
NM_016729.3
p.W143R
c.427T>C
4 papers
NM_016729.3
p.W143*
c.428G>A
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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."