Varaico: Literature-Extracted Genetic Variants

Gene:SLC19A2
Variant:p.I411M

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.I411M
c.1233T>G
Surrounding Variants
3 papers
NM_006996.3
p.I411delFs
c.1232delA
1 paper
NM_006996.3
p.Q410_I411delFs
c.1230_1233del4
3 papers
NM_006996.3
p.I411fs
c.1231_1232fs
1 paper
NM_006996.3
p.Q410delFs
c.1228delG
1 paper
NM_006996.3
p.Q410*
c.1228C>T
2 papers
NM_006996.3
p.L415del1
c.1243_1245delGAG
1 paper
NM_006996.3
p.M417L
c.1249A>T
1 paper
NM_006996.3
p.M417V
c.1249A>G
1 paper
NM_006996.3
p.M417L
c.1249A>C
1 paper
NM_006996.3
p.M417_E418Fs
c.1251_1252delinsGFs
1 paper
NM_006996.3
p.R419ins1
c.1255_1256insCTT
2 papers
NM_006996.3
p.R419H
c.1256G>A
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