Varaico: Literature-Extracted Genetic Variants

Gene:SLC19A2
Variant:p.A16fs

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.A16fs
c.46_47fs
Surrounding Variants
1 paper
NM_006996.3
p.A16ins1
c.47_48insGGC
1 paper
NM_006996.3
p.A16ins2
c.47_48ins6
1 paper
NM_006996.3
p.A15V
c.44C>T
1 paper
NM_006996.3
p.A15_A16del1
c.45_47delGCC
1 paper
NM_006996.3
p.A14_A16del0
c.42_47del6
1 paper
NM_006996.3
p.A13_A15Fs
c.38_44delinsTCCFs
1 paper
NM_006996.3
p.A15_A16del2
c.43_47del6
1 paper
NM_006996.3
p.V7_A16del10
c.19_47del30
1 paper
NM_006996.3
p.V18M
c.52G>A
1 paper
NM_006996.3
p.L19R
c.56T>G
1 paper
NM_006996.3
p.A12delFs
c.35delG
5 papers
NM_006996.3
p.L20L
c.60G>A
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