Varaico: Literature-Extracted Genetic Variants

SLC25A47

25 papers

RefSeq Summary

This gene encodes a member of a large family of mitochondrial transporters. The nuclear-encoded carrier protein is embedded in the inner mitochondrial membrane. This member of the family is thought to...

Pfam Domains

Mito_carraa 1–84UCSCMitochondrial carrier protein

Mito_carraa 4–64UCSCMitochondrial carrier protein

Mito_carraa 67–160UCSCMitochondrial carrier protein

Mito_carraa 93–210UCSCMitochondrial carrier protein

Gene Aliases

HGNC Name

solute carrier family 25 member 47

HGNC Previous Symbol

C14orf68

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_207117.4

p.T308I

c.923C>T

Surrounding Variants

1 paper

NM_207117.4

p.R272W

c.814C>T

1 paper

NM_207117.4

p.R254C

c.760C>T

1 paper

NM_207117.4

p.K242R

c.725A>G

1 paper

NM_207117.4

p.T236I

c.707C>T

1 paper

NM_207117.4

p.G225fs

c.673_674fs

1 paper

NM_207117.4

p.R214Q

c.641G>A

1 paper

NM_207117.4

p.A201A

c.603G>C

1 paper

NM_207117.4

p.C165*

c.495C>A

1 paper

NM_207117.4

p.P162A

c.484C>G

1 paper

NM_207117.4

p.P151L

c.452C>T

1 paper

NM_207117.4

p.P146P

c.438C>G

1 paper

NM_207117.4

p.S139L

c.416C>T