Varaico: Literature-Extracted Genetic Variants

Gene:SLC19A2
Variant:p.Q155K

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.Q155K
c.463C>A
Surrounding Variants
1 paper
NM_006996.3
p.M153_Y154del2
c.457_461del6
1 paper
NM_006996.3
p.Q155R
c.464A>G
1 paper
NM_006996.3
p.M153_Y154del1
c.458_460delACA
1 paper
NM_006996.3
p.G152_M153delFs
c.454_458del5
6 papers
NM_006996.3
p.G152_M153delins
c.454_458delinsTA
1 paper
NM_006996.3
p.G152D
c.455G>A
3 papers
NM_006996.3
p.T158R
c.473C>G
1 paper
NM_006996.3
p.T158insFs
c.472dupA
1 paper
NM_006996.3
p.T158K
c.473C>A
1 paper
NM_006996.3
p.L151Q
c.452T>A
1 paper
NM_006996.3
p.L151L
c.451C>T
1 paper
NM_006996.3
p.D150N
c.448G>A
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