Varaico: Literature-Extracted Genetic Variants

Gene:SLC19A2
Variant:p.E66*

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
14 papers
NM_006996.3
p.E66*
c.196G>T
Surrounding Variants
1 paper
NM_006996.3
p.L58_T65delFs
c.173_194del22
1 paper
NM_006996.3
p.R67K
c.200G>A
2 papers
NM_006996.3
p.L64P
c.191T>C
5 papers
NM_006996.3
p.E68_V69Splc
c.204+2T>G
1 paper
NM_006996.3
p.P60insFs
c.179dupC
1 paper
NM_006996.3
p.G59G
c.177G>A
1 paper
NM_006996.3
p.L57L
c.169C>T
1 paper
NM_006996.3
p.P55fs
c.163_164fs
1 paper
NM_006996.3
p.P55delFs
c.164delG
1 paper
NM_006996.3
p.T54I
c.161C>T
1 paper
NM_006996.3
p.T54N
c.161C>A
1 paper
NM_006996.3
p.F52F
c.156C>T
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