Varaico: Literature-Extracted Genetic Variants

Gene:SLC19A2
Variant:p.S143F

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
17 papers
NM_006996.3
p.S143F
c.428C>T
Surrounding Variants
1 paper
NM_006996.3
p.T137_Y142insFs
c.409_424dup16
1 paper
NM_006996.3
p.S143delFs
c.427_428delGA
1 paper
NM_006996.3
p.Y144fs
c.430_431fs
1 paper
NM_006996.3
p.Y144delFs
c.430delA
2 papers
NM_006996.3
p.S143_Y144delFs
c.429_430delAA
1 paper
NM_006996.3
p.I145fs
c.433_434fs
1 paper
NM_006996.3
p.Y141N
c.421T>A
1 paper
NM_006996.3
p.Y146insFs
c.437_438insGT
2 papers
NM_006996.3
p.I139N
c.416T>A
1 paper
NM_006996.3
p.V148L
c.442G>C
2 papers
NM_006996.3
p.E138A
c.413A>C
1 paper
NM_006996.3
p.E138*
c.412G>T
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