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.C271_A272delFs

c.813_814delCA

Surrounding Variants

2 papers

NM_001191061.2

p.A272fs

c.814_815fs

2 papers

NM_001191061.2

p.R273K

c.818G>A

1 paper

NM_001191061.2

p.D270G

c.809A>G

1 paper

NM_001191061.2

p.Q254L

c.761A>T

1 paper

NM_001191061.2

p.R252Q

c.755G>A

2 papers

NM_001191061.2

p.R252W

c.754C>T

1 paper

NM_001191061.2

p.V249A

c.746T>C

4 papers

NM_001191061.2

p.V249E

c.746T>A

3 papers

NM_001191061.2

p.R273K

c.818G>A

1 paper

NM_001191061.2

p.E279fs

c.835_836fs

1 paper

NM_001191061.2

p.E279insFs

c.835dupG

1 paper

NM_001191061.2

p.G280S

c.838G>A