Varaico: Literature-Extracted Genetic Variants

Gene:SLC19A2
Variant:p.E270fs

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.E270fs
c.808_809fs
Surrounding Variants
1 paper
NM_006996.3
p.P269_E270Splc
c.808-1G>A
1 paper
NM_006996.3
p.P269_E270Splc
c.808-5T>G
1 paper
NM_006996.3
p.P273delFs
c.818delG
1 paper
NM_006996.3
p.R275C
c.823C>T
1 paper
NM_006996.3
p.R275L
c.824G>T
2 papers
NM_006996.3
p.V278A
c.833T>C
1 paper
NM_006996.3
p.V281L
c.841G>T
1 paper
NM_006996.3
p.V281L
c.841G>C
2 papers
NM_006996.3
p.W283*
c.848G>A
1 paper
NM_006996.3
p.W283*
c.849G>A
1 paper
NM_006996.3
p.D285delFs
c.855delA
1 paper
NM_006996.3
p.S291S
c.873C>A
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."