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

2 papers

NM_014252.4

p.R179Q

c.536G>A

Surrounding Variants

31 papers

NM_014252.4

p.R179*

c.535C>T

13 papers

NM_014252.4

p.E180K

c.538G>A

1 paper

NM_014252.4

p.E180D

c.540A>C

1 paper

NM_014252.4

p.E180D

c.540A>T

1 paper

NM_014252.4

p.G183S

c.547G>A

1 paper

NM_014252.4

p.S175fs

c.523_524fs

1 paper

NM_014252.4

p.F185_F186delFs

c.554_557del4

1 paper

NM_014252.4

p.S174*

c.521C>A

1 paper

NM_014252.4

p.S174*

c.521C>G

17 papers

NM_014252.4

p.F188del1

c.562_563delTTC

1 paper

NM_014252.4

p.F185_F187Fs

c.554_559delinsTGTGFs

1 paper

NM_014252.4

p.G172*

c.514G>T