Varaico: Literature-Extracted Genetic Variants

Gene:SLC19A2
Variant:p.A374_A376del3

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.A374_A376del3
c.1120_1127del9
Surrounding Variants
1 paper
NM_006996.3
p.V383fs
c.1147_1148fs
2 papers
NM_006996.3
p.V383E
c.1148T>A
2 papers
NM_006996.3
p.V383fs
c.1147_1148fs
1 paper
NM_006996.3
p.F369_S370insFs
c.1105_1109dup5
1 paper
NM_006996.3
p.L371fs
c.1111_1112fs
1 paper
NM_006996.3
p.F369_S370del2
c.1105_1109del6
4 papers
NM_006996.3
p.V383delFs
c.1148_1149delCA
1 paper
NM_006996.3
p.F369_S370delFs
c.1107_1108delAA
6 papers
NM_006996.3
p.W387*
c.1160G>A
6 papers
NM_006996.3
p.W387*
c.1161G>A
1 paper
NM_006996.3
p.V388M
c.1162G>A
1 paper
NM_006996.3
p.D381_V388ins2
c.1141_1164dup24
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