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.F105L

c.315C>A

Surrounding Variants

1 paper

NM_005984.5

p.F105S

c.314T>C

1 paper

NM_005984.5

p.E106V

c.317A>T

1 paper

NM_005984.5

p.E106A

c.317A>C

1 paper

NM_005984.5

p.F105_E106delFs

c.314_317del4

1 paper

NM_005984.5

p.L108R

c.323T>G

1 paper

NM_005984.5

p.S109G

c.325A>G

2 papers

NM_005984.5

p.D114V

c.341A>T

1 paper

NM_005984.5

p.L119delFs

c.357delC

1 paper

NM_005984.5

p.D120D

c.360C>T

1 paper

NM_005984.5

p.T122P

c.364A>C

1 paper

NM_005984.5

p.L126L

c.376C>T

10 papers

NM_005984.5

p.G130D

c.389G>A