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

9 papers

NM_001152.5

p.L173P

c.518T>C

Surrounding Variants

2 papers

NM_001152.5

p.Q175_G176delFs

c.525_526delAG

1 paper

NM_001152.5

p.G169E

c.506G>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.N178K

c.534C>G

5 papers

NM_001152.5

p.D168N

c.502G>A

1 paper

NM_001152.5

p.K166R

c.497A>G

4 papers

NM_001152.5

p.Y165C

c.494A>G

1 paper

NM_001152.5

p.G183D

c.548G>A

5 papers

NM_001152.5

p.G183V

c.548G>T

1 paper

NM_001152.5

p.Y187*

c.561C>A

1 paper

NM_001152.5

p.R188Q

c.563G>A