Varaico: Literature-Extracted Genetic Variants

Gene:FLVCR1
Variant:p.Y442*

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.Y442*
c.1326C>A
Surrounding Variants
1 paper
NM_014053.4
p.Y442*
c.1326C>G
1 paper
NM_014053.4
p.L443P
c.1328T>C
1 paper
NM_014053.4
p.L443R
c.1328T>G
1 paper
NM_014053.4
p.Y442fs
c.1324_1325fs
4 papers
NM_014053.4
p.Y442fs
c.1324_1325fs
1 paper
NM_014053.4
p.P444S
c.1330C>T
5 papers
NM_014053.4
p.Y442insFs
c.1324dupT
1 paper
NM_014053.4
p.P444L
c.1331C>T
1 paper
NM_014053.4
p.T440S
c.1319C>G
1 paper
NM_014053.4
p.T440S
c.1318A>T
1 paper
NM_014053.4
p.T440fs
c.1318_1319fs
1 paper
NM_014053.4
p.L445S
c.1334T>C
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