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

1–12 of 204 variants

11 papers

NM_005984.5

p.P45L

c.134C>T

11 papers

NM_005984.5

p.R247Q

c.740G>A

11 papers

NM_005984.5

p.R282C

c.844C>T

10 papers

NM_005984.5

p.G130D

c.389G>A

9 papers

NM_005984.5

p.A9fs

c.25_26fs

7 papers

NM_005984.5

p.G167R

c.499G>C

7 papers

NM_005984.5

p.G167R

c.499G>A

7 papers

NM_005984.5

p.S193W

c.578C>G

7 papers

NM_005984.5

p.M202T

c.605T>C

7 papers

NM_005984.5

p.R282G

c.844C>G

6 papers

NM_005984.5

p.E144Q

c.430G>C

6 papers

NM_005984.5

p.R198H

c.593G>A