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

11 papers

NM_014252.4

p.R275Q

c.824G>A

Surrounding Variants

2 papers

NM_014252.4

p.R275G

c.823C>G

6 papers

NM_014252.4

p.R275*

c.823C>T

1 paper

NM_014252.4

p.R275del1

c.823_824delCGA

4 papers

NM_014252.4

p.M273K

c.818T>A

1 paper

NM_014252.4

p.F277Y

c.830T>A

10 papers

NM_014252.4

p.T272I

c.815C>T

4 papers

NM_014252.4

p.L283F

c.847C>T

1 paper

NM_014252.4

p.F284_L285delFs

c.852_855del4

1 paper

NM_014252.4

p.A264T

c.790G>A

1 paper

NM_014252.4

p.A264P

c.790G>C

1 paper

NM_014252.4

p.T263T

c.789G>A

2 papers

NM_014252.4

p.T263M

c.788C>T