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

9 papers

NM_014252.4

p.G190D

c.569G>A

Surrounding Variants

1 paper

NM_014252.4

p.G189insFs

c.567dupT

1 paper

NM_014252.4

p.G189S

c.565G>A

5 papers

NM_014252.4

p.F188L

c.564C>A

5 papers

NM_014252.4

p.F188L

c.564C>G

1 paper

NM_014252.4

p.F188Y

c.563T>A

5 papers

NM_014252.4

p.F188L

c.562T>C

2 papers

NM_014252.4

p.L193P

c.578T>C

1 paper

NM_014252.4

p.L193insFs

c.578_579insAA

1 paper

NM_014252.4

p.F185_F187Fs

c.554_559delinsTGTGFs

17 papers

NM_014252.4

p.F188del1

c.562_563delTTC

1 paper

NM_014252.4

p.F185_F186delFs

c.554_557del4

1 paper

NM_014252.4

p.G183S

c.547G>A