Varaico: Literature-Extracted Genetic Variants

Gene:SLC19A2
Variant:p.M1T

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.M1T
c.2T>C
Surrounding Variants
1 paper
NM_006996.3
p.M1I
c.3G>T
1 paper
NM_006996.3
p.M1I
c.3G>A
1 paper
NM_006996.3
p.D2N
c.4G>A
1 paper
NM_006996.3
p.D2D
c.6T>C
1 paper
NM_006996.3
p.M1_V3del0
c.1_9del9
1 paper
NM_006996.3
p.V3_P6delFs
c.7_16del10
1 paper
NM_006996.3
p.G5_P6delFs
c.15_16delGG
1 paper
NM_006996.3
p.V7M
c.19G>A
1 paper
NM_006996.3
p.S8Y
c.23C>A
1 paper
NM_006996.3
p.M1_R9del9
c.1_26del27
1 paper
NM_006996.3
p.A11V
c.32C>T
1 paper
NM_006996.3
p.A12delFs
c.35delG
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