Varaico: Literature-Extracted Genetic Variants

SLC25A30

15 papers

RefSeq Summary

Although the outer mitochondrial membrane is permeable to many small metabolites, transport of solutes across the inner mitochondrial membrane is achieved by members of the mitochondrial carrier prote...

Pfam Domains

Mito_carraa 2–101UCSCMitochondrial carrier protein

Mito_carraa 102–194UCSCMitochondrial carrier protein

Mito_carraa 197–290UCSCMitochondrial carrier protein

Gene Aliases

HGNC Name

solute carrier family 25 member 30

HGNC Previous Name

solute carrier family 25, member 30

Papers

RefSeq ID

Protein change

DNA change

1–12 of 14 variants

4 papers

NM_001010875.4

p.F280L

c.838T>C

3 papers

NM_001010875.4

p.F280L

c.840T>G

3 papers

NM_001010875.4

p.F280L

c.840T>A

1 paper

NM_001010875.4

p.T29P

c.85A>C

1 paper

NM_001010875.4

p.R78C

c.232C>T

1 paper

NM_001010875.4

p.R95*

c.283C>T

1 paper

NM_001010875.4

p.N139D

c.415A>G

1 paper

NM_001010875.4

p.I174V

c.520A>G

1 paper

NM_001010875.4

p.N230S

c.689A>G

1 paper

NM_001010875.4

p.W253*

c.758G>A

1 paper

NM_001010875.4

p.W253*

c.759G>A

1 paper

NM_001010875.4

p.Y262C

c.785A>G