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

16 papers

NM_003705.5

p.Q590R

c.1769A>G

Surrounding Variants

1 paper

NM_003705.5

p.Q590P

c.1769A>C

1 paper

NM_003705.5

p.R586Q

c.1757G>A

1 paper

NM_003705.5

p.T594_L595ins10

c.1782_1783ins30

1 paper

NM_003705.5

p.V596ins10

c.1787_1788ins30

2 papers

NM_003705.5

p.R583R

c.1747C>A

1 paper

NM_003705.5

p.L600insFs

c.1799_1800insA

1 paper

NM_003705.5

p.L600_L601insFs

c.1800_1801insA

1 paper

NM_003705.5

p.R603W

c.1807C>T

1 paper

NM_003705.5

p.A582Splc

c.1745-58A>G

1 paper

NM_003705.5

p.G579E

c.1736G>A

1 paper

NM_003705.5

p.E570insFs

c.1709_1710insA

1 paper

NM_003705.5

p.R569insFs

c.1706_1707insA