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.F90S

c.269T>C

Surrounding Variants

1 paper

NM_001191061.2

p.R91*

c.271C>T

1 paper

NM_001191061.2

p.D88E

c.264C>G

1 paper

NM_001191061.2

p.D88E

c.264C>A

1 paper

NM_001191061.2

p.N87S

c.260A>G

1 paper

NM_001191061.2

p.L84insFs

c.250_251ins4

1 paper

NM_001191061.2

p.G98Splc

c.293+3G>A

1 paper

NM_001191061.2

p.K80K

c.240G>A

1 paper

NM_001191061.2

p.E79*

c.235G>T

2 papers

NM_001191061.2

p.E79Q

c.235G>C

4 papers

NM_001191061.2

p.E79K

c.235G>A

3 papers

NM_001191061.2

p.P78P

c.234C>T

1 paper

NM_001191061.2

p.L75delFs

c.225delG