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

4 papers

NM_001191061.2

p.G110R

c.328G>C

Surrounding Variants

1 paper

NM_001191061.2

p.E106V

c.317A>T

1 paper

NM_001191061.2

p.G114R

c.340G>C

1 paper

NM_001191061.2

p.C116Y

c.347G>A

1 paper

NM_001191061.2

p.L103M

c.307C>A

2 papers

NM_001191061.2

p.Q117R

c.350A>G

1 paper

NM_001191061.2

p.E125K

c.373G>A

2 papers

NM_001191061.2

p.G135W

c.403G>T

1 paper

NM_001191061.2

p.R136G

c.406C>G

1 paper

NM_001191061.2

p.A139T

c.415G>A

1 paper

NM_001191061.2

p.I143delins

c.428delinsACAC

3 papers

NM_001191061.2

p.L150V

c.448C>G

1 paper

NM_001191061.2

p.S151insFs

c.452dupC