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.G124E

c.371G>A

Surrounding Variants

1 paper

NM_001152.5

p.A123T

c.367G>A

18 papers

NM_001152.5

p.G121C

c.361G>T

1 paper

NM_001152.5

p.G120G

c.360T>C

1 paper

NM_001152.5

p.G120D

c.359G>A

10 papers

NM_001152.5

p.A118T

c.352G>A

1 paper

NM_001152.5

p.Y112S

c.335A>C

5 papers

NM_001152.5

p.L111R

c.332T>G

11 papers

NM_001152.5

p.R138H

c.413G>A

2 papers

NM_001152.5

p.T139T

c.417C>T

1 paper

NM_001152.5

p.R140H

c.419G>A

1 paper

NM_001152.5

p.R140L

c.419G>T

1 paper

NM_001152.5

p.T107I

c.320C>T