Varaico: Literature-Extracted Genetic Variants

Gene:SLC19A2
Variant:p.A136fs

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
1 paper
NM_006996.3
p.A136fs
c.406_407fs
Surrounding Variants
4 papers
NM_006996.3
p.T135insFs
c.405dupA
2 papers
NM_006996.3
p.A136fs
c.406_407fs
1 paper
NM_006996.3
p.E138*
c.412G>T
3 papers
NM_006996.3
p.E138K
c.412G>A
2 papers
NM_006996.3
p.E138A
c.413A>C
1 paper
NM_006996.3
p.A134V
c.401C>T
2 papers
NM_006996.3
p.I139N
c.416T>A
1 paper
NM_006996.3
p.A134S
c.400G>T
1 paper
NM_006996.3
p.Y141N
c.421T>A
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.Y131C
c.392A>G
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