Varaico: Literature-Extracted Genetic Variants

Gene:SLC25A12

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
1–12 of 151 variants
16 papers
NM_003705.5
p.Q590R
c.1769A>G
8 papers
NM_003705.5
p.R353Q
c.1058G>A
5 papers
NM_003705.5
p.T444I
c.1331C>T
5 papers
NM_003705.5
p.T462M
c.1385C>T
4 papers
NM_003705.5
p.M1T
c.2T>C
4 papers
NM_003705.5
p.L546_Q554insFs
c.1638_1660dup23
3 papers
NM_003705.5
p.T7T
c.21A>G
3 papers
NM_003705.5
p.R134*
c.400C>T
3 papers
NM_003705.5
p.Q155_E156Splc
c.466-3C>T
3 papers
NM_003705.5
p.E252K
c.754G>A
3 papers
NM_003705.5
p.L284_T285delFs
c.852_855del4
3 papers
NM_003705.5
p.L349P
c.1046T>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."