Varaico: Literature-Extracted Genetic Variants

Gene:SLC19A2
Variant:p.S194F

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
2 papers
NM_006996.3
p.S194F
c.581C>T
Surrounding Variants
1 paper
NM_006996.3
p.S194P
c.580T>C
1 paper
NM_006996.3
p.I193T
c.578T>C
1 paper
NM_006996.3
p.S189_L190insFs
c.567_568insT
6 papers
NM_006996.3
p.S189Fs
c.566_567delinsTCTFs
2 papers
NM_006996.3
p.S199*
c.596C>G
2 papers
NM_006996.3
p.S199*
c.596C>A
1 paper
NM_006996.3
p.V200L
c.598G>T
1 paper
NM_006996.3
p.V200L
c.598G>C
1 paper
NM_006996.3
p.F188L
c.564C>G
1 paper
NM_006996.3
p.F188L
c.564C>A
1 paper
NM_006996.3
p.F188L
c.562T>C
1 paper
NM_006996.3
p.V200delFs
c.599delA
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