Varaico: Literature-Extracted Genetic Variants

Gene:FLVCR1
Variant:p.F216L

FLVCR1

168 papers

RefSeq Summary

This gene encodes a member of the major facilitator superfamily of transporter proteins. The encoded protein is a heme transporter that may play a critical role in erythropoiesis by protecting develop...

Pfam Domains

MFS_1aa 109–478UCSCMajor Facilitator Superfamily

Gene Aliases

HGNC Name

FLVCR choline and heme transporter 1

HGNC Previous Symbol

AXPC1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014053.4
p.F216L
c.646T>C
Surrounding Variants
1 paper
NM_014053.4
p.F216L
c.648C>A
1 paper
NM_014053.4
p.F216L
c.648C>G
1 paper
NM_014053.4
p.F216_L218del3
c.646_653del9
1 paper
NM_014053.4
p.G219S
c.655G>A
3 papers
NM_014053.4
p.G219C
c.655G>T
12 papers
NM_014053.4
p.P221S
c.661C>T
1 paper
NM_014053.4
p.A225T
c.673G>A
1 paper
NM_014053.4
p.M204fs
c.610_611fs
6 papers
NM_014053.4
p.M204fs
c.610_611fs
5 papers
NM_014053.4
p.M204delFs
c.610delA
1 paper
NM_014053.4
p.F229_G230delFs
c.687_688delTG
1 paper
NM_014053.4
p.K232_V234ins1
c.696_701dup6
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