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

16 papers

NM_001152.5

p.G73S

c.217G>A

Surrounding Variants

15 papers

NM_001152.5

p.N77T

c.230A>C

1 paper

NM_001152.5

p.V67V

c.201T>C

12 papers

NM_001152.5

p.I79F

c.235A>T

6 papers

NM_001152.5

p.V67fs

c.199_200fs

1 paper

NM_001152.5

p.G66G

c.198A>G

1 paper

NM_001152.5

p.I79T

c.236T>C

2 papers

NM_001152.5

p.G66fs

c.196_197fs

1 paper

NM_001152.5

p.R80K

c.239G>A

9 papers

NM_001152.5

p.Q65Fs

c.194delinsAGFs

4 papers

NM_001152.5

p.Q65fs

c.193_194fs

1 paper

NM_001152.5

p.Y81*

c.243C>A

1 paper

NM_001152.5

p.Y81*

c.243C>G