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

4 papers

NM_001152.5

p.Y165C

c.494A>G

Surrounding Variants

1 paper

NM_001152.5

p.K166R

c.497A>G

5 papers

NM_001152.5

p.D168N

c.502G>A

1 paper

NM_001152.5

p.D168E

c.504T>A

1 paper

NM_001152.5

p.D168E

c.504T>G

1 paper

NM_001152.5

p.G169E

c.506G>A

6 papers

NM_001152.5

p.G158S

c.472G>A

9 papers

NM_001152.5

p.L173P

c.518T>C

2 papers

NM_001152.5

p.Q175_G176delFs

c.525_526delAG

1 paper

NM_001152.5

p.R155Q

c.464G>A

1 paper

NM_001152.5

p.R152K

c.455G>A

1 paper

NM_001152.5

p.N178K

c.534C>G

2 papers

NM_001152.5

p.E151fs

c.451_452fs