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

1 paper

NM_001191061.2

p.I143delins

c.428delinsACAC

Surrounding Variants

1 paper

NM_001191061.2

p.A139T

c.415G>A

3 papers

NM_001191061.2

p.L150V

c.448C>G

1 paper

NM_001191061.2

p.S151insFs

c.452dupC

1 paper

NM_001191061.2

p.Q153*

c.457C>T

1 paper

NM_001191061.2

p.A152insFs

c.456dupC

2 papers

NM_001191061.2

p.Q153delFs

c.458delT

1 paper

NM_001191061.2

p.G155fs

c.463_464fs

1 paper

NM_001191061.2

p.G155delFs

c.465delA

2 papers

NM_001191061.2

p.R167Q

c.500G>A

1 paper

NM_001191061.2

p.R175H

c.524G>A

1 paper

NM_001191061.2

p.A184A

c.552C>A

1 paper

NM_001191061.2

p.L186F

c.556C>T