Varaico: Literature-Extracted Genetic Variants

Gene:SLC19A2
Variant:p.S255_K256insFs

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.S255_K256insFs
c.764_767dup4
Surrounding Variants
1 paper
NM_006996.3
p.D252_I257del0
c.756_770del15
2 papers
NM_006996.3
p.E254*
c.760G>T
6 papers
NM_006996.3
p.I253insFs
c.759dupT
3 papers
NM_006996.3
p.I253delFs
c.759delA
1 paper
NM_006996.3
p.I253I
c.759T>C
1 paper
NM_006996.3
p.I253delFs
c.757delT
1 paper
NM_006996.3
p.I253fs
c.757_758fs
1 paper
NM_006996.3
p.W250delFs
c.749_750delCC
6 papers
NM_006996.3
p.W250*
c.750G>A
5 papers
NM_006996.3
p.W250*
c.749G>A
1 paper
NM_006996.3
p.E263D
c.789G>C
1 paper
NM_006996.3
p.P265S
c.793C>T
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