Varaico: Literature-Extracted Genetic Variants

Gene:SLC19A2
Variant:p.I399M

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.I399M
c.1197C>G
Surrounding Variants
1 paper
NM_006996.3
p.Y400insFs
c.1199dupA
1 paper
NM_006996.3
p.M401fs
c.1201_1202fs
3 papers
NM_006996.3
p.M401delFs
c.1201_1202delAT
1 paper
NM_006996.3
p.L402S
c.1205T>C
3 papers
NM_006996.3
p.R397*
c.1189A>T
1 paper
NM_006996.3
p.I399_L402del0
c.1196_1204del9
5 papers
NM_006996.3
p.T405A
c.1213A>G
1 paper
NM_006996.3
p.T405R
c.1214C>G
3 papers
NM_006996.3
p.A391_S392ins0
c.1173_1175dupATC
1 paper
NM_006996.3
p.A391ins1
c.1171_1172insCAT
1 paper
NM_006996.3
p.A391_S392insS
c.1171_1175ins3
4 papers
NM_006996.3
p.T408Splc
c.1223+1G>A
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