Varaico: Literature-Extracted Genetic Variants

SLC25A52

15 papers

RefSeq Summary

This gene is similar to the mitochondrial carrier triple repeat 1 gene on chromosome 9. The gene is intronless and may be an evolving pseudogene; however, it is transcribed and it contains a full-leng...

Pfam Domains

Mito_carraa 37–123UCSCMitochondrial carrier protein

Mito_carraa 124–215UCSCMitochondrial carrier protein

Mito_carraa 207–297UCSCMitochondrial carrier protein

Gene Aliases

HGNC Name

solute carrier family 25 member 52

HGNC Previous Symbol

MCART2

Papers

RefSeq ID

Protein change

DNA change

1 paper

NM_001034172.4

p.D67H

c.199G>C

1 paper

NM_001034172.4

p.N79S

c.236A>G

1 paper

NM_001034172.4

p.D104G

c.311A>G

1 paper

NM_001034172.4

p.E132A

c.395A>C

1 paper

NM_001034172.4

p.E132D

c.396A>T

1 paper

NM_001034172.4

p.E132D

c.396A>C

1 paper

NM_001034172.4

p.E139Q

c.415G>C

1 paper

NM_001034172.4

p.E199D

c.597G>T

1 paper

NM_001034172.4

p.A209S

c.625G>T

1 paper

NM_001034172.4

p.G222S

c.664G>A

1 paper

NM_001034172.4

p.G244C

c.730G>T

1 paper

NM_001034172.4

p.S249insFs

c.745_746insA