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

9 papers

NM_001151.4

p.R236P

c.707G>C

Surrounding Variants

1 paper

NM_001151.4

p.R236H

c.707G>A

2 papers

NM_001151.4

p.R236G

c.706C>G

1 paper

NM_001151.4

p.R236C

c.706C>T

15 papers

NM_001151.4

p.R235G

c.703C>G

1 paper

NM_001151.4

p.M240L

c.718A>T

1 paper

NM_001151.4

p.P230L

c.689C>T

1 paper

NM_001151.4

p.S242F

c.725C>T

1 paper

NM_001151.4

p.P230S

c.688C>T

1 paper

NM_001151.4

p.R244fs

c.730_731fs

2 papers

NM_001151.4

p.K245I

c.734A>T

1 paper

NM_001151.4

p.G246R

c.736G>A

1 paper

NM_001151.4

p.G246R

c.736G>C