Varaico: Literature-Extracted Genetic Variants

Gene:SLC19A2
Variant:p.S357insFs

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.S357insFs
c.1069_1070insAA
Surrounding Variants
3 papers
NM_006996.3
p.W358*
c.1073G>A
5 papers
NM_006996.3
p.W358*
c.1074G>A
2 papers
NM_006996.3
p.I354_K355del1
c.1061_1063delTTA
9 papers
NM_006996.3
p.K355Q
c.1063A>C
2 papers
NM_006996.3
p.S359L
c.1076C>T
3 papers
NM_006996.3
p.T360T
c.1080T>C
3 papers
NM_006996.3
p.V351A
c.1052T>C
1 paper
NM_006996.3
p.A350_V351del1
c.1049_1051delCTG
1 paper
NM_006996.3
p.M364_T365insG
c.1090_1094ins3
1 paper
NM_006996.3
p.T365S
c.1093A>T
1 paper
NM_006996.3
p.G344insFs
c.1032dupT
1 paper
NM_006996.3
p.F369_S370delFs
c.1107_1108delAA
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."