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

Selected Variant

1 paper

NM_001151.4

p.A47S

c.139G>T

Surrounding Variants

1 paper

NM_001151.4

p.A47T

c.139G>A

1 paper

NM_001151.4

p.S46N

c.137G>A

1 paper

NM_001151.4

p.Q44Q

c.132G>A

1 paper

NM_001151.4

p.Q50R

c.149A>G

2 papers

NM_001151.4

p.K43E

c.127A>G

1 paper

NM_001151.4

p.A41T

c.121G>A

1 paper

NM_001151.4

p.A41P

c.121G>C

1 paper

NM_001151.4

p.G53G

c.159G>C

1 paper

NM_001151.4

p.I54N

c.161T>A

1 paper

NM_001151.4

p.Q39E

c.115C>G

4 papers

NM_001151.4

p.Q39fs

c.115_116fs

2 papers

NM_001151.4

p.Q39_S46delFs

c.116_137del22