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

1–12 of 154 variants

31 papers

NM_014252.4

p.R179*

c.535C>T

17 papers

NM_014252.4

p.F188del1

c.562_563delTTC

13 papers

NM_014252.4

p.G27E

c.80G>A

13 papers

NM_014252.4

p.E180K

c.538G>A

12 papers

NM_014252.4

p.G27R

c.79G>A

12 papers

NM_014252.4

p.G27R

c.79G>C

11 papers

NM_014252.4

p.R275Q

c.824G>A

10 papers

NM_014252.4

p.T272I

c.815C>T

9 papers

NM_014252.4

p.G190D

c.569G>A

8 papers

NM_014252.4

p.T32R

c.95C>G

8 papers

NM_014252.4

p.P126R

c.377C>G

7 papers

NM_014252.4

p.G220R

c.658G>A