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

1–12 of 26 variants

2 papers

NM_207117.4

p.T308I

c.923C>T

1 paper

NM_207117.4

p.A5V

c.14C>T

1 paper

NM_207117.4

p.A15T

c.43G>A

1 paper

NM_207117.4

p.P19P

c.57C>A

1 paper

NM_207117.4

p.T29M

c.86C>T

1 paper

NM_207117.4

p.I36I

c.108C>A

1 paper

NM_207117.4

p.Y44*

c.132T>A

1 paper

NM_207117.4

p.Y44*

c.132T>G

1 paper

NM_207117.4

p.R48_V49Splc

c.144+1G>A

1 paper

NM_207117.4

p.A79E

c.236C>A

1 paper

NM_207117.4

p.T113M

c.338C>T

1 paper

NM_207117.4

p.Q126P

c.377A>C