Varaico: Literature-Extracted Genetic Variants

SLC25A22

121 papers

RefSeq Summary

This gene encodes a mitochondrial glutamate carrier. Mutations in this gene are associated with early infantile epileptic encephalopathy. Multiple alternatively spliced variants, encoding the same pro...

Pfam Domains

Mito_carraa 4–98UCSCMitochondrial carrier protein

Mito_carraa 99–216UCSCMitochondrial carrier protein

Mito_carraa 221–309UCSCMitochondrial carrier protein

Gene Aliases

HGNC Name

solute carrier family 25 member 22

HGNC Alias Symbols

GC1; FLJ13044; NET44; EIEE3; GC-1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001191061.2

p.V227M

c.679G>A

Surrounding Variants

1 paper

NM_001191061.2

p.K222T

c.665A>C

14 papers

NM_001191061.2

p.G236W

c.706G>T

1 paper

NM_001191061.2

p.G236A

c.707G>C

1 paper

NM_001191061.2

p.A240T

c.718G>A

1 paper

NM_001191061.2

p.V243I

c.727G>A

1 paper

NM_001191061.2

p.N244S

c.731A>G

1 paper

NM_001191061.2

p.C246R

c.736T>C

18 papers

NM_001191061.2

p.P206L

c.617C>T

1 paper

NM_001191061.2

p.F205F

c.615C>T

1 paper

NM_001191061.2

p.Y204S

c.611A>C

1 paper

NM_001191061.2

p.F200C

c.599T>G

1 paper

NM_001191061.2

p.P199L

c.596C>T