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.Q238*

c.712C>T

Surrounding Variants

1 paper

NM_014252.4

p.R236G

c.706A>G

1 paper

NM_014252.4

p.S243_G244insFs

c.729_730insTT

2 papers

NM_014252.4

p.K245*

c.733A>T

1 paper

NM_014252.4

p.D231H

c.691G>C

1 paper

NM_014252.4

p.Q246K

c.736C>A

1 paper

NM_014252.4

p.P229_V230insN

c.685_689ins3

1 paper

NM_014252.4

p.A226T

c.676G>A

1 paper

NM_014252.4

p.W224*

c.672G>A

1 paper

NM_014252.4

p.W224*

c.671G>A

1 paper

NM_014252.4

p.T252T

c.756C>A

1 paper

NM_014252.4

p.T252T

c.756C>T

4 papers

NM_014252.4

p.I254L

c.760A>C