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.A70V

c.209C>T

Surrounding Variants

1 paper

NM_014252.4

p.A70delins

c.208_209delinsTT

2 papers

NM_014252.4

p.A70delFs

c.208_209delGC

4 papers

NM_014252.4

p.L71Q

c.212T>A

1 paper

NM_014252.4

p.I72M

c.216C>G

1 paper

NM_014252.4

p.A73G

c.218C>G

1 paper

NM_014252.4

p.T67A

c.199A>G

1 paper

NM_014252.4

p.N74Y

c.220A>T

1 paper

NM_014252.4

p.G66V

c.197G>T

1 paper

NM_014252.4

p.N74K

c.222C>A

1 paper

NM_014252.4

p.A76D

c.227C>A

1 paper

NM_014252.4

p.A76_E77ins1

c.228_229insAAC

1 paper

NM_014252.4

p.F63L

c.189C>A