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.R569insFs

c.1706_1707insA

Surrounding Variants

1 paper

NM_003705.5

p.E570insFs

c.1709_1710insA

1 paper

NM_003705.5

p.G553_F564del12

c.1657_1691del36

1 paper

NM_003705.5

p.D562E

c.1686C>G

1 paper

NM_003705.5

p.D562E

c.1686C>A

1 paper

NM_003705.5

p.G579E

c.1736G>A

1 paper

NM_003705.5

p.T555_T556insFs

c.1665_1666ins4

4 papers

NM_003705.5

p.L546_Q554insFs

c.1638_1660dup23

1 paper

NM_003705.5

p.G553D

c.1658G>A

2 papers

NM_003705.5

p.A552T

c.1654G>A

1 paper

NM_003705.5

p.R551C

c.1651C>T

1 paper

NM_003705.5

p.D540N

c.1618G>A

1 paper

NM_003705.5

p.A582Splc

c.1745-58A>G