Varaico: Literature-Extracted Genetic Variants

Gene:FLVCR1
Variant:p.Q246_L247Splc

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.Q246_L247Splc
c.738+9T>C
Surrounding Variants
3 papers
NM_014053.4
p.N245D
c.733A>G
1 paper
NM_014053.4
p.N245Y
c.733A>T
4 papers
NM_014053.4
p.G244S
c.730G>A
1 paper
NM_014053.4
p.A241V
c.722C>T
16 papers
NM_014053.4
p.A241T
c.721G>A
1 paper
NM_014053.4
p.T240delFs
c.719delC
1 paper
NM_014053.4
p.S235Y
c.704C>A
1 paper
NM_014053.4
p.S235A
c.703T>G
2 papers
NM_014053.4
p.E233del1
c.697_698delGAG
1 paper
NM_014053.4
p.K232_V234ins1
c.696_701dup6
1 paper
NM_014053.4
p.F229_G230delFs
c.687_688delTG
1 paper
NM_014053.4
p.A225T
c.673G>A
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