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

1–12 of 131 variants

18 papers

NM_001152.5

p.G121C

c.361G>T

16 papers

NM_001152.5

p.G73S

c.217G>A

15 papers

NM_001152.5

p.N77T

c.230A>C

14 papers

NM_001152.5

p.A41P

c.121G>C

12 papers

NM_001152.5

p.I79F

c.235A>T

11 papers

NM_001152.5

p.R138H

c.413G>A

10 papers

NM_001152.5

p.A118T

c.352G>A

9 papers

NM_001152.5

p.Q65Fs

c.194delinsAGFs

9 papers

NM_001152.5

p.L173P

c.518T>C

9 papers

NM_001152.5

p.R236P

c.707G>C

9 papers

NM_001152.5

p.E293*

c.877G>T

8 papers

NM_001152.5

p.A150delFs

c.450delT