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.L226L

c.676C>T

Surrounding Variants

1 paper

NM_003705.5

p.S224L

c.671C>T

1 paper

NM_003705.5

p.N228_M229insN

c.682_686ins3

1 paper

NM_003705.5

p.N228N

c.684C>T

1 paper

NM_003705.5

p.Y218S

c.653A>C

1 paper

NM_003705.5

p.R243K

c.728G>A

1 paper

NM_003705.5

p.G207V

c.620G>T

1 paper

NM_003705.5

p.A205A

c.615A>T

1 paper

NM_003705.5

p.V248I

c.742G>A

3 papers

NM_003705.5

p.E252K

c.754G>A

1 paper

NM_003705.5

p.E252delFs

c.754delC

1 paper

NM_003705.5

p.I270_L271insFs

c.810_811insA

1 paper

NM_003705.5

p.Q273*

c.817C>T