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

3 papers

NM_005984.5

p.K27Q

c.79A>C

Surrounding Variants

1 paper

NM_005984.5

p.K27E

c.79A>G

1 paper

NM_005984.5

p.G26_K27insFs

c.78_79ins14

2 papers

NM_005984.5

p.K27M

c.80A>T

4 papers

NM_005984.5

p.A28T

c.82G>A

1 paper

NM_005984.5

p.P25del1

c.73_74delCGG

1 paper

NM_005984.5

p.I29V

c.85A>G

1 paper

NM_005984.5

p.H24fs

c.70_71fs

1 paper

NM_005984.5

p.H24R

c.71A>G

1 paper

NM_005984.5

p.A31P

c.91G>C

1 paper

NM_005984.5

p.L22_T23insFs

c.66_67insAT

1 paper

NM_005984.5

p.L22P

c.65T>C

1 paper

NM_005984.5

p.A31A

c.93A>T