Varaico: Literature-Extracted Genetic Variants

Gene:FLVCR1
Variant:p.Q312*

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.Q312*
c.934C>T
Surrounding Variants
1 paper
NM_014053.4
p.D313N
c.937G>A
1 paper
NM_014053.4
p.P315R
c.944C>G
1 paper
NM_014053.4
p.Q308delFs
c.924delA
1 paper
NM_014053.4
p.E317*
c.949G>T
1 paper
NM_014053.4
p.Q306*
c.916C>T
1 paper
NM_014053.4
p.E318K
c.952G>A
1 paper
NM_014053.4
p.S305R
c.915T>A
1 paper
NM_014053.4
p.S305R
c.915T>G
1 paper
NM_014053.4
p.S305R
c.913A>C
1 paper
NM_014053.4
p.P303R
c.908C>G
1 paper
NM_014053.4
p.P303L
c.908C>T
1 paper
NM_014053.4
p.Y321C
c.962A>G
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