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.F63L

c.189C>A

Surrounding Variants

2 papers

NM_014252.4

p.R61H

c.182G>A

1 paper

NM_014252.4

p.G66V

c.197G>T

1 paper

NM_014252.4

p.T67A

c.199A>G

1 paper

NM_014252.4

p.G59_Y64delFs

c.176_191del16

2 papers

NM_014252.4

p.A70delFs

c.208_209delGC

1 paper

NM_014252.4

p.A70delins

c.208_209delinsTT

1 paper

NM_014252.4

p.A70V

c.209C>T

4 papers

NM_014252.4

p.L71Q

c.212T>A

1 paper

NM_014252.4

p.Y55*

c.165C>A

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