Varaico: Literature-Extracted Genetic Variants

Gene:SLC19A2
Variant:p.A91S

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.A91S
c.271G>T
Surrounding Variants
3 papers
NM_006996.3
p.A91P
c.271G>C
2 papers
NM_006996.3
p.A91D
c.272C>A
1 paper
NM_006996.3
p.L90P
c.269T>C
1 paper
NM_006996.3
p.L90_A91del2
c.268_272del6
15 papers
NM_006996.3
p.D93H
c.277G>C
2 papers
NM_006996.3
p.Y94H
c.280T>C
1 paper
NM_006996.3
p.P87S
c.259C>T
2 papers
NM_006996.3
p.R96fs
c.286_287fs
1 paper
NM_006996.3
p.R96C
c.286C>T
1 paper
NM_006996.3
p.R96H
c.287G>A
5 papers
NM_006996.3
p.R96delFs
c.287delC
1 paper
NM_006996.3
p.Y97N
c.289T>A
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