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.Y55*

c.165C>A

Surrounding Variants

1 paper

NM_014252.4

p.Y55*

c.165C>G

1 paper

NM_014252.4

p.Y55C

c.164A>G

3 papers

NM_014252.4

p.Y55insFs

c.164_165insA

1 paper

NM_014252.4

p.K53N

c.159G>C

1 paper

NM_014252.4

p.G59_Y64delFs

c.176_191del16

2 papers

NM_014252.4

p.R61H

c.182G>A

1 paper

NM_014252.4

p.F63L

c.189C>A

2 papers

NM_014252.4

p.L47F

c.139C>T

1 paper

NM_014252.4

p.R45W

c.133C>T

1 paper

NM_014252.4

p.G66V

c.197G>T

1 paper

NM_014252.4

p.Y44*

c.132C>A

1 paper

NM_014252.4

p.Y44Y

c.132C>T