Varaico: Literature-Extracted Genetic Variants

Gene:SLC19A2
Variant:p.S299_V300delFs

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.S299_V300delFs
c.896_899del4
Surrounding Variants
2 papers
NM_006996.3
p.W301fs
c.901_902fs
4 papers
NM_006996.3
p.W301delFs
c.903delC
3 papers
NM_006996.3
p.W302*
c.905G>A
3 papers
NM_006996.3
p.W302*
c.906G>A
1 paper
NM_006996.3
p.L296R
c.887T>G
5 papers
NM_006996.3
p.L295delFs
c.885delA
1 paper
NM_006996.3
p.L304_S305insFs
c.911_914dup4
1 paper
NM_006996.3
p.T306I
c.917C>T
1 paper
NM_006996.3
p.S305_T306del2
c.913_917del6
1 paper
NM_006996.3
p.P294A
c.880C>G
1 paper
NM_006996.3
p.R293L
c.878G>T
1 paper
NM_006996.3
p.R293insFs
c.877dupC
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