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

1–12 of 92 variants

18 papers

NM_001191061.2

p.P206L

c.617C>T

14 papers

NM_001191061.2

p.G236W

c.706G>T

6 papers

NM_001191061.2

p.T56P

c.166A>C

4 papers

NM_001191061.2

p.E79K

c.235G>A

4 papers

NM_001191061.2

p.G110R

c.328G>C

4 papers

NM_001191061.2

p.V249E

c.746T>A

4 papers

NM_001191061.2

p.A296T

c.886G>A

3 papers

NM_001191061.2

p.P78P

c.234C>T

3 papers

NM_001191061.2

p.L150V

c.448C>G

3 papers

NM_001191061.2

p.R273K

c.818G>A

2 papers

NM_001191061.2

p.G19R

c.55G>A

2 papers

NM_001191061.2

p.K33E

c.97A>G