Varaico: Literature-Extracted Genetic Variants

Gene:FLVCR1
Variant:p.P542S

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.P542S
c.1624C>T
Surrounding Variants
14 papers
NM_014053.4
p.T544M
c.1631C>T
1 paper
NM_014053.4
p.D535E
c.1605C>A
1 paper
NM_014053.4
p.D535E
c.1605C>G
5 papers
NM_014053.4
p.S553A
c.1657T>G
1 paper
NM_014053.4
p.S553L
c.1658C>T
1 paper
NM_014053.4
p.A554P
c.1660G>C
1 paper
NM_014053.4
p.A531_I532Splc
c.1593+9T>C
1 paper
NM_014053.4
p.A531_I532Splc
c.1593+1G>A
1 paper
NM_014053.4
p.T525delFs
c.1575delA
3 papers
NM_014053.4
p.G523R
c.1567G>A
2 papers
NM_014053.4
p.G523R
c.1567G>C
1 paper
NM_014053.4
p.N519fs
c.1555_1556fs
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