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

1 paper

NM_005984.5

p.A136A

c.408C>G

Surrounding Variants

1 paper

NM_005984.5

p.A136_V137insFs

c.408_409insG

1 paper

NM_005984.5

p.A136A

c.408C>A

1 paper

NM_005984.5

p.A134_E135insFs

c.402_403insG

1 paper

NM_005984.5

p.A134V

c.401C>T

1 paper

NM_005984.5

p.C141S

c.422G>C

1 paper

NM_005984.5

p.A131V

c.392C>T

10 papers

NM_005984.5

p.G130D

c.389G>A

6 papers

NM_005984.5

p.E144Q

c.430G>C

1 paper

NM_005984.5

p.T145T

c.435C>T

1 paper

NM_005984.5

p.K147E

c.439A>G

1 paper

NM_005984.5

p.L126L

c.376C>T

1 paper

NM_005984.5

p.T122P

c.364A>C