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.G284_R285delFs

c.851_854del4

Surrounding Variants

2 papers

NM_005984.5

p.V286A

c.857T>C

1 paper

NM_005984.5

p.R285W

c.853C>T

1 paper

NM_005984.5

p.G284R

c.850G>C

1 paper

NM_005984.5

p.L288L

c.862C>T

1 paper

NM_005984.5

p.R282P

c.845G>C

6 papers

NM_005984.5

p.R282H

c.845G>A

1 paper

NM_005984.5

p.V290M

c.868G>A

11 papers

NM_005984.5

p.R282C

c.844C>T

7 papers

NM_005984.5

p.R282G

c.844C>G

1 paper

NM_005984.5

p.P281L

c.842C>T

1 paper

NM_005984.5

p.V280V

c.840C>A

1 paper

NM_005984.5

p.V280A

c.839T>C