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

1 paper

NM_003705.5

p.I19M

c.57A>G

Surrounding Variants

1 paper

NM_003705.5

p.Q22H

c.66G>C

1 paper

NM_003705.5

p.D12G

c.35A>G

3 papers

NM_003705.5

p.T7T

c.21A>G

1 paper

NM_003705.5

p.Q6*

c.16C>T

1 paper

NM_003705.5

p.V5V

c.15G>A

1 paper

NM_003705.5

p.A2insFs

c.4dupG

1 paper

NM_003705.5

p.M1I

c.3G>C

4 papers

NM_003705.5

p.M1T

c.2T>C