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

14 papers

NM_001152.5

p.A41P

c.121G>C

Surrounding Variants

1 paper

NM_001152.5

p.V38A

c.113T>C

4 papers

NM_001152.5

p.Q44H

c.132G>C

4 papers

NM_001152.5

p.Q44H

c.132G>T

1 paper

NM_001152.5

p.T46T

c.138T>C

1 paper

NM_001152.5

p.A47A

c.141A>T

1 paper

NM_001152.5

p.I54N

c.161T>A

1 paper

NM_001152.5

p.C57C

c.171C>T

1 paper

NM_001152.5

p.V58M

c.172G>A

1 paper

NM_001152.5

p.P62L

c.185C>T

4 papers

NM_001152.5

p.Q65fs

c.193_194fs

9 papers

NM_001152.5

p.Q65Fs

c.194delinsAGFs

2 papers

NM_001152.5

p.G66fs

c.196_197fs