Varaico: Literature-Extracted Genetic Variants

Gene:SLC19A2
Variant:p.F369_S370delFs

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
1 paper
NM_006996.3
p.F369_S370delFs
c.1107_1108delAA
Surrounding Variants
1 paper
NM_006996.3
p.F369_S370insFs
c.1105_1109dup5
1 paper
NM_006996.3
p.L371fs
c.1111_1112fs
1 paper
NM_006996.3
p.F369_S370del2
c.1105_1109del6
1 paper
NM_006996.3
p.T365S
c.1093A>T
1 paper
NM_006996.3
p.M364_T365insG
c.1090_1094ins3
1 paper
NM_006996.3
p.A374_A376del3
c.1120_1127del9
3 papers
NM_006996.3
p.T360T
c.1080T>C
2 papers
NM_006996.3
p.S359L
c.1076C>T
5 papers
NM_006996.3
p.W358*
c.1074G>A
3 papers
NM_006996.3
p.W358*
c.1073G>A
1 paper
NM_006996.3
p.V383fs
c.1147_1148fs
2 papers
NM_006996.3
p.V383E
c.1148T>A
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