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.E279insFs

c.835dupG

Surrounding Variants

1 paper

NM_001191061.2

p.E279fs

c.835_836fs

1 paper

NM_001191061.2

p.G280S

c.838G>A

1 paper

NM_001191061.2

p.P281S

c.841C>T

3 papers

NM_001191061.2

p.R273K

c.818G>A

1 paper

NM_001191061.2

p.G287V

c.860G>T

1 paper

NM_001191061.2

p.R291H

c.872G>A

4 papers

NM_001191061.2

p.A296T

c.886G>A

1 paper

NM_001191061.2

p.A296V

c.887C>T

1 paper

NM_001191061.2

p.G300S

c.898G>A

1 paper

NM_001191061.2

p.I301T

c.902T>C

1 paper

NM_001191061.2

p.A302V

c.905C>T

2 papers

NM_001191061.2

p.R273K

c.818G>A