Varaico: Literature-Extracted Genetic Variants

Gene:SLC19A2
Variant:p.A412_Y420del0

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.A412_Y420del0
c.1234_1260del27
Surrounding Variants
4 papers
NM_006996.3
p.L422P
c.1265T>C
1 paper
NM_006996.3
p.Y420insFs
c.1260dupT
1 paper
NM_006996.3
p.E418_V423insFs
c.1253_1269dup17
1 paper
NM_006996.3
p.R419ins1
c.1255_1256insCTT
2 papers
NM_006996.3
p.R419H
c.1256G>A
1 paper
NM_006996.3
p.F424F
c.1272T>C
1 paper
NM_006996.3
p.M417_E418Fs
c.1251_1252delinsGFs
1 paper
NM_006996.3
p.V426I
c.1276G>A
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.V426del1
c.1276_1277delTAC
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."