Varaico: Literature-Extracted Genetic Variants

SLC25A12

140 papers

RefSeq Summary

This gene encodes a calcium-binding mitochondrial carrier protein. The encoded protein localizes to the mitochondria and is involved in the exchange of aspartate for glutamate across the inner mitocho...

Pfam Domains

Mito_carraa 324–421UCSCMitochondrial carrier protein

Mito_carraa 422–513UCSCMitochondrial carrier protein

Mito_carraa 515–609UCSCMitochondrial carrier protein

Gene Aliases

HGNC Name

solute carrier family 25 member 12

HGNC Alias Symbols

Aralar; aralar1; AGC1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_003705.5

p.S326F

c.977C>T

Surrounding Variants

1 paper

NM_003705.5

p.T331S

c.991A>T

1 paper

NM_003705.5

p.T331S

c.992C>G

1 paper

NM_003705.5

p.G333S

c.997G>A

2 papers

NM_003705.5

p.G333D

c.998G>A

1 paper

NM_003705.5

p.P346T

c.1036C>A

3 papers

NM_003705.5

p.L349P

c.1046T>C

1 paper

NM_003705.5

p.V350M

c.1048G>A

8 papers

NM_003705.5

p.R353Q

c.1058G>A

1 paper

NM_003705.5

p.M354I

c.1062G>T

1 paper

NM_003705.5

p.M354I

c.1062G>C

1 paper

NM_003705.5

p.M354I

c.1062G>A

1 paper

NM_003705.5

p.Q355E

c.1063C>G