Varaico: Literature-Extracted Genetic Variants

Gene:SLC19A2
Variant:p.E128K

SLC19A2

249 papers

RefSeq Summary

This gene encodes the thiamin transporter protein. Mutations in this gene cause thiamin-responsive megaloblastic anemia syndrome (TRMA), which is an autosomal recessive disorder characterized by diabe...

Pfam Domains

Folate_carrieraa 28–458UCSCReduced folate carrier

Gene Aliases

HGNC Name

solute carrier family 19 member 2

HGNC Previous Symbol

TRMA

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_006996.3
p.E128K
c.382G>A
Surrounding Variants
1 paper
NM_006996.3
p.E128A
c.383A>C
1 paper
NM_006996.3
p.L127L
c.379C>T
1 paper
NM_006996.3
p.Q125_F126del1
c.374_376delATT
2 papers
NM_006996.3
p.Q125*
c.373C>T
1 paper
NM_006996.3
p.Y131C
c.392A>G
1 paper
NM_006996.3
p.Y131delFs
c.391delA
1 paper
NM_006996.3
p.Y131_G132insFs
c.393_394insG
1 paper
NM_006996.3
p.Y131fs
c.391_392fs
1 paper
NM_006996.3
p.A123_I124delFs
c.369_370delTG
2 papers
NM_006996.3
p.L122P
c.365T>C
1 paper
NM_006996.3
p.A134S
c.400G>T
1 paper
NM_006996.3
p.W112_L121delFs
c.336_363del28
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