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

3 papers

NM_003705.5

p.N445K

c.1335C>A

Surrounding Variants

2 papers

NM_003705.5

p.N445K

c.1335C>G

2 papers

NM_003705.5

p.P446L

c.1337C>T

5 papers

NM_003705.5

p.T444I

c.1331C>T

1 paper

NM_003705.5

p.V441I

c.1321G>A

1 paper

NM_003705.5

p.I452N

c.1355T>A

1 paper

NM_003705.5

p.G438D

c.1313G>A

2 papers

NM_003705.5

p.G437E

c.1310G>A

1 paper

NM_003705.5

p.A457V

c.1370C>T

5 papers

NM_003705.5

p.T462M

c.1385C>T

1 paper

NM_003705.5

p.G463_P464insFs

c.1389_1390insCT

2 papers

NM_003705.5

p.R473Q

c.1418G>A

1 paper

NM_003705.5

p.D474N

c.1420G>A