Varaico: Literature-Extracted Genetic Variants

SLC25A4

235 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 4

HGNC Previous Symbols

PEO3; PEO2; ANT1

Papers

RefSeq ID

Protein change

DNA change

1–12 of 183 variants

37 papers

NM_001151.4

p.A114P

c.340G>C

33 papers

NM_001151.4

p.L98P

c.293T>C

30 papers

NM_001151.4

p.D104G

c.311A>G

30 papers

NM_001151.4

p.A123D

c.368C>A

29 papers

NM_001151.4

p.V289M

c.865G>A

26 papers

NM_001151.4

p.A90D

c.269C>A

20 papers

NM_001151.4

p.R80H

c.239G>A

15 papers

NM_001151.4

p.R235G

c.703C>G

10 papers

NM_001151.4

p.Q37_V38Splc

c.111+1G>A

9 papers

NM_001151.4

p.Q175delFs

c.523delC

9 papers

NM_001151.4

p.R236P

c.707G>C

7 papers

NM_001151.4

p.K33Q

c.97A>C