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.K33E

c.97A>G

Surrounding Variants

1 paper

NM_001191061.2

p.K33Q

c.97A>C

1 paper

NM_001191061.2

p.L31L

c.93G>A

1 paper

NM_001191061.2

p.I29F

c.85A>T

1 paper

NM_001191061.2

p.P28S

c.82C>T

1 paper

NM_001191061.2

p.G42A

c.125G>C

1 paper

NM_001191061.2

p.G19R

c.55G>C

2 papers

NM_001191061.2

p.G19R

c.55G>A

1 paper

NM_001191061.2

p.T47S

c.139A>T

1 paper

NM_001191061.2

p.I17L

c.49A>C

1 paper

NM_001191061.2

p.A10D

c.29C>A

1 paper

NM_001191061.2

p.S7S

c.21C>T

1 paper

NM_001191061.2

p.K4M

c.11A>T