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

1 paper

NM_001152.5

p.R80K

c.239G>A

Surrounding Variants

1 paper

NM_001152.5

p.I79T

c.236T>C

12 papers

NM_001152.5

p.I79F

c.235A>T

1 paper

NM_001152.5

p.Y81*

c.243C>A

1 paper

NM_001152.5

p.Y81*

c.243C>G

3 papers

NM_001152.5

p.F82I

c.244T>A

15 papers

NM_001152.5

p.N77T

c.230A>C

1 paper

NM_001152.5

p.L87F

c.259C>T

1 paper

NM_001152.5

p.L87P

c.260T>C

16 papers

NM_001152.5

p.G73S

c.217G>A

2 papers

NM_001152.5

p.L87L

c.261T>C

1 paper

NM_001152.5

p.F89F

c.267C>T

1 paper

NM_001152.5

p.A90D

c.269C>A