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.R93delFs

c.279delG

Surrounding Variants

1 paper

NM_014252.4

p.R93Q

c.278G>A

1 paper

NM_014252.4

p.V95M

c.283G>A

1 paper

NM_014252.4

p.Q90R

c.269A>G

1 paper

NM_014252.4

p.Q90L

c.269A>T

1 paper

NM_014252.4

p.Q90*

c.268C>T

5 papers

NM_014252.4

p.Q89*

c.265C>T

1 paper

NM_014252.4

p.L98M

c.292T>A

1 paper

NM_014252.4

p.Y85*

c.255C>A

1 paper

NM_014252.4

p.Y85*

c.255C>G

1 paper

NM_014252.4

p.Q101*

c.301C>T

1 paper

NM_014252.4

p.Y85H

c.253T>C

1 paper

NM_014252.4

p.S105Splc

c.314+1G>C