Varaico: Literature-Extracted Genetic Variants

SLC25A5

163 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 5

HGNC Previous Symbol

ANT2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

8 papers

NM_001152.5

p.A150delFs

c.450delT

Surrounding Variants

6 papers

NM_001152.5

p.A150fs

c.448_449fs

2 papers

NM_001152.5

p.E151fs

c.451_452fs

1 paper

NM_001152.5

p.E151fs

c.451_452fs

6 papers

NM_001152.5

p.G149E

c.446G>A

1 paper

NM_001152.5

p.G149_A150Fs

c.446_450delinsAAGCFs

1 paper

NM_001152.5

p.G149fs

c.445_446fs

1 paper

NM_001152.5

p.R152K

c.455G>A

1 paper

NM_001152.5

p.R155Q

c.464G>A

1 paper

NM_001152.5

p.D144A

c.431A>C

1 paper

NM_001152.5

p.A143A

c.429T>C

6 papers

NM_001152.5

p.G158S

c.472G>A

1 paper

NM_001152.5

p.R140H

c.419G>A