Varaico: Literature-Extracted Genetic Variants

Gene:FOLR1
Variant:p.C96S

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.C96S
c.287G>C
Surrounding Variants
1 paper
NM_016729.3
p.C96F
c.287G>T
1 paper
NM_016729.3
p.C96S
c.286T>A
4 papers
NM_016729.3
p.R98W
c.292C>T
1 paper
NM_016729.3
p.E91G
c.272A>G
1 paper
NM_016729.3
p.Q102R
c.305A>G
1 paper
NM_016729.3
p.T104A
c.310A>G
1 paper
NM_016729.3
p.H88H
c.264C>T
11 papers
NM_016729.3
p.C105R
c.313T>C
1 paper
NM_016729.3
p.N87delFs
c.260_261delAC
1 paper
NM_016729.3
p.L106P
c.317T>C
1 paper
NM_016729.3
p.E108K
c.322G>A
5 papers
NM_016729.3
p.E108*
c.322G>T
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