Varaico: Literature-Extracted Genetic Variants

SLC25A4

235 papers

RefSeq Summary

This gene is a member of the mitochondrial carrier subfamily of solute carrier protein genes. The product of this gene functions as a gated pore that translocates ADP from the cytoplasm into the mitoc...

Pfam Domains

Mito_carraa 4–103UCSCMitochondrial carrier protein

Mito_carraa 109–206UCSCMitochondrial carrier protein

Mito_carraa 206–298UCSCMitochondrial carrier protein

Gene Aliases

HGNC Name

solute carrier family 25 member 4

HGNC Previous Symbols

PEO3; PEO2; ANT1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001151.4

p.V179L

c.535G>C

Surrounding Variants

1 paper

NM_001151.4

p.V181F

c.541G>T

1 paper

NM_001151.4

p.V181G

c.542T>G

2 papers

NM_001151.4

p.Q175fs

c.523_524fs

9 papers

NM_001151.4

p.Q175delFs

c.523delC

1 paper

NM_001151.4

p.Y174fs

c.520_521fs

2 papers

NM_001151.4

p.G172E

c.515G>A

1 paper

NM_001151.4

p.I185_Y187Fs

c.554_559delinsTGTGFs

1 paper

NM_001151.4

p.L170P

c.509T>C

1 paper

NM_001151.4

p.A189G

c.566C>G

1 paper

NM_001151.4

p.A189A

c.567T>C

1 paper

NM_001151.4

p.K166E

c.496A>G

1 paper

NM_001151.4

p.G193R

c.577G>A