Varaico: Literature-Extracted Genetic Variants

Gene:FLVCR1
Variant:p.G493R

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
12 papers
NM_014053.4
p.G493R
c.1477G>A
Surrounding Variants
12 papers
NM_014053.4
p.G493R
c.1477G>C
1 paper
NM_014053.4
p.G489D
c.1466G>A
4 papers
NM_014053.4
p.Y488C
c.1463A>G
1 paper
NM_014053.4
p.C498insFs
c.1492dupT
1 paper
NM_014053.4
p.C498fs
c.1492_1493fs
1 paper
NM_014053.4
p.D487N
c.1459G>A
1 paper
NM_014053.4
p.I506T
c.1517T>C
2 papers
NM_014053.4
p.A470T
c.1408G>A
1 paper
NM_014053.4
p.S469C
c.1406C>G
1 paper
NM_014053.4
p.L465fs
c.1393_1394fs
1 paper
NM_014053.4
p.L465_A468Fs
c.1393_1402delinsACFs
1 paper
NM_014053.4
p.G464S
c.1390G>A
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