Varaico: Literature-Extracted Genetic Variants

Gene:SLC19A2
Variant:p.I441T

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
10 papers
NM_006996.3
p.I441T
c.1322T>C
Surrounding Variants
1 paper
NM_006996.3
p.L440V
c.1318C>G
1 paper
NM_006996.3
p.L437_L438insGT
c.1309_1313ins6
1 paper
NM_006996.3
p.S446R
c.1336A>C
1 paper
NM_006996.3
p.S446R
c.1338T>G
1 paper
NM_006996.3
p.S446R
c.1338T>A
1 paper
NM_006996.3
p.G447insFs
c.1339dupG
1 paper
NM_006996.3
p.L432delFs
c.1296delC
1 paper
NM_006996.3
p.L432R
c.1295T>G
1 paper
NM_006996.3
p.L432Q
c.1295T>A
1 paper
NM_006996.3
p.L432V
c.1294C>G
1 paper
NM_006996.3
p.L450delins
c.1348_1350delinsTAG
1 paper
NM_006996.3
p.E451Q
c.1351G>C
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