Varaico: Literature-Extracted Genetic Variants

SLC25A1

341 papers

RefSeq Summary

This gene encodes a member of the mitochondrial carrier subfamily of solute carrier proteins. Members of this family include nuclear-encoded transporters that translocate small metabolites across the ...

Pfam Domains

Mito_carraa 14–110UCSCMitochondrial carrier protein

Mito_carraa 22–116UCSCMitochondrial carrier protein

Mito_carraa 113–205UCSCMitochondrial carrier protein

Gene Aliases

HGNC Name

solute carrier family 25 member 1

HGNC Previous Symbol

SLC20A3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

11 papers

NM_005984.5

p.R247Q

c.740G>A

Surrounding Variants

1 paper

NM_005984.5

p.R247L

c.740G>T

1 paper

NM_005984.5

p.D242A

c.725A>C

1 paper

NM_005984.5

p.D242Y

c.724G>T

1 paper

NM_005984.5

p.L241L

c.721C>T

1 paper

NM_005984.5

p.N238S

c.713A>G

1 paper

NM_005984.5

p.G237_N238insFs

c.711_712insGG

1 paper

NM_005984.5

p.A232V

c.695C>T

1 paper

NM_005984.5

p.G227R

c.679G>C

1 paper

NM_005984.5

p.G227R

c.679G>A

1 paper

NM_005984.5

p.V225F

c.673G>T

1 paper

NM_005984.5

p.I222N

c.665T>A

2 papers

NM_005984.5

p.L221P

c.662T>C