Varaico: Literature-Extracted Genetic Variants

SLC25A15

157 papers

RefSeq Summary

This gene is a member of the mitochondrial carrier family. The encoded protein transports ornithine across the inner mitochondrial membrane from the cytosol to the mitochondrial matrix. The protein is...

Pfam Domains

Mito_carraa 6–96UCSCMitochondrial carrier protein

Mito_carraa 102–202UCSCMitochondrial carrier protein

Mito_carraa 205–298UCSCMitochondrial carrier protein

Gene Aliases

HGNC Name

solute carrier family 25 member 15

HGNC Previous Symbols

ORNT1; HHH

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_014252.4

p.V130M

c.388G>A

Surrounding Variants

1 paper

NM_014252.4

p.R133W

c.397C>T

1 paper

NM_014252.4

p.P126P

c.378C>T

1 paper

NM_014252.4

p.R133Q

c.398G>A

8 papers

NM_014252.4

p.P126R

c.377C>G

2 papers

NM_014252.4

p.T136delFs

c.408delC

1 paper

NM_014252.4

p.L124F

c.370C>T

1 paper

NM_014252.4

p.V123A

c.368T>C

2 papers

NM_014252.4

p.M137fs

c.409_410fs

1 paper

NM_014252.4

p.M137R

c.410T>G

1 paper

NM_014252.4

p.L122L

c.364C>T

2 papers

NM_014252.4

p.E139G

c.416A>G

1 paper

NM_014252.4

p.A116A

c.348C>G