Varaico: Literature-Extracted Genetic Variants

Gene:SLC19A2
Variant:p.A391_S392ins0

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
3 papers
NM_006996.3
p.A391_S392ins0
c.1173_1175dupATC
Surrounding Variants
1 paper
NM_006996.3
p.A391ins1
c.1171_1172insCAT
1 paper
NM_006996.3
p.A391_S392insS
c.1171_1175ins3
1 paper
NM_006996.3
p.D381_V388ins2
c.1141_1164dup24
3 papers
NM_006996.3
p.R397*
c.1189A>T
1 paper
NM_006996.3
p.V388M
c.1162G>A
6 papers
NM_006996.3
p.W387*
c.1161G>A
6 papers
NM_006996.3
p.W387*
c.1160G>A
2 papers
NM_006996.3
p.I399M
c.1197C>G
1 paper
NM_006996.3
p.Y400insFs
c.1199dupA
4 papers
NM_006996.3
p.V383delFs
c.1148_1149delCA
2 papers
NM_006996.3
p.V383fs
c.1147_1148fs
1 paper
NM_006996.3
p.M401fs
c.1201_1202fs
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