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.P45S

c.133C>T

Surrounding Variants

11 papers

NM_005984.5

p.P45L

c.134C>T

2 papers

NM_005984.5

p.E47K

c.139G>A

3 papers

NM_005984.5

p.V49M

c.145G>A

2 papers

NM_005984.5

p.I40N

c.119T>A

1 paper

NM_005984.5

p.I40L

c.118A>C

1 paper

NM_005984.5

p.E39A

c.116A>C

1 paper

NM_005984.5

p.E39Q

c.115G>C

1 paper

NM_005984.5

p.E39K

c.115G>A

1 paper

NM_005984.5

p.Q52H

c.156G>T

1 paper

NM_005984.5

p.Q52H

c.156G>C

1 paper

NM_005984.5

p.G37S

c.109G>A

1 paper

NM_005984.5

p.A35A

c.105G>A