Varaico: Literature-Extracted Genetic Variants

Gene:FLVCR1
Variant:p.G523R

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
2 papers
NM_014053.4
p.G523R
c.1567G>C
Surrounding Variants
3 papers
NM_014053.4
p.G523R
c.1567G>A
1 paper
NM_014053.4
p.T525delFs
c.1575delA
1 paper
NM_014053.4
p.N519fs
c.1555_1556fs
1 paper
NM_014053.4
p.N519_N521delFs
c.1557_1561del5
7 papers
NM_014053.4
p.R516Q
c.1547G>A
1 paper
NM_014053.4
p.R516*
c.1546C>T
1 paper
NM_014053.4
p.A531_I532Splc
c.1593+1G>A
1 paper
NM_014053.4
p.K512E
c.1534A>G
1 paper
NM_014053.4
p.A531_I532Splc
c.1593+9T>C
2 papers
NM_014053.4
p.A509fs
c.1525_1526fs
1 paper
NM_014053.4
p.A509Splc
c.1526-3C>T
1 paper
NM_014053.4
p.D535E
c.1605C>A
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