Varaico: Literature-Extracted Genetic Variants

Gene:FLVCR1
Variant:p.Q124L

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
3 papers
NM_014053.4
p.Q124L
c.371A>T
Surrounding Variants
2 papers
NM_014053.4
p.F123L
c.369T>A
1 paper
NM_014053.4
p.F123F
c.369T>C
2 papers
NM_014053.4
p.F123L
c.369T>G
1 paper
NM_014053.4
p.I126_Q127del0
c.376_381del6
1 paper
NM_014053.4
p.F123C
c.368T>G
2 papers
NM_014053.4
p.F123L
c.367T>C
1 paper
NM_014053.4
p.Q127*
c.379C>T
1 paper
NM_014053.4
p.Q127R
c.380A>G
19 papers
NM_014053.4
p.N121D
c.361A>G
1 paper
NM_014053.4
p.Y128N
c.382T>A
1 paper
NM_014053.4
p.S129_V134del6
c.385_401del18
1 paper
NM_014053.4
p.G137V
c.410G>T
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