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.G116_Q117del2

c.346_350del6

Surrounding Variants

1 paper

NM_003705.5

p.E113*

c.337G>T

1 paper

NM_003705.5

p.D129G

c.386A>G

1 paper

NM_003705.5

p.C130Y

c.389G>A

1 paper

NM_003705.5

p.C130delFs

c.390delA

3 papers

NM_003705.5

p.R134*

c.400C>T

1 paper

NM_003705.5

p.R141W

c.421C>T

1 paper

NM_003705.5

p.R141R

c.423G>C

3 papers

NM_003705.5

p.Q155_E156Splc

c.466-3C>T

1 paper

NM_003705.5

p.A162A

c.486A>C

1 paper

NM_003705.5

p.A167T

c.499G>A

1 paper

NM_003705.5

p.G175_M176insFs

c.525_526insC

1 paper

NM_003705.5

p.T188A

c.562A>G