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.D311A

c.932A>C

Surrounding Variants

1 paper

NM_005984.5

p.D311E

c.933C>G

1 paper

NM_005984.5

p.D311E

c.933C>A

3 papers

NM_005984.5

p.T310M

c.929C>T

1 paper

NM_005984.5

p.V301del1

c.901_902delCAC

2 papers

NM_005984.5

p.E299V

c.896A>T

2 papers

NM_005984.5

p.D298N

c.892G>A

6 papers

NM_005984.5

p.Y297C

c.890A>G

1 paper

NM_005984.5

p.Y297H

c.889T>C

1 paper

NM_005984.5

p.V290M

c.868G>A

1 paper

NM_005984.5

p.L288L

c.862C>T

2 papers

NM_005984.5

p.V286A

c.857T>C

1 paper

NM_005984.5

p.G284_R285delFs

c.851_854del4