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.Q97H

c.291G>C

Surrounding Variants

1 paper

NM_001151.4

p.Q97H

c.291G>T

1 paper

NM_001151.4

p.L98F

c.292C>T

1 paper

NM_001151.4

p.F99_L100del1

c.297_299delCTT

33 papers

NM_001151.4

p.L98P

c.293T>C

1 paper

NM_001151.4

p.L100*

c.299T>A

1 paper

NM_001151.4

p.L100*

c.299T>G

1 paper

NM_001151.4

p.G101R

c.301G>A

1 paper

NM_001151.4

p.G101R

c.301G>C

2 papers

NM_001151.4

p.G102D

c.305G>A

1 paper

NM_001151.4

p.V103L

c.307G>C

1 paper

NM_001151.4

p.V103L

c.307G>T

1 paper

NM_001151.4

p.V103E

c.308T>A