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

7 papers

NM_014252.4

p.G220R

c.658G>A

Surrounding Variants

6 papers

NM_014252.4

p.G220R

c.658G>C

1 paper

NM_014252.4

p.G219_G220del0

c.655_660del6

1 paper

NM_014252.4

p.G217R

c.649G>A

1 paper

NM_014252.4

p.G217R

c.649G>C

3 papers

NM_014252.4

p.G216S

c.646G>A

1 paper

NM_014252.4

p.W224*

c.671G>A

1 paper

NM_014252.4

p.W224*

c.672G>A

1 paper

NM_014252.4

p.L214*

c.641T>A

1 paper

NM_014252.4

p.L214*

c.641T>G

1 paper

NM_014252.4

p.A226T

c.676G>A

1 paper

NM_014252.4

p.P229_V230insN

c.685_689ins3

1 paper

NM_014252.4

p.D231H

c.691G>C