Varaico: Literature-Extracted Genetic Variants

SLC25A19

113 papers

RefSeq Summary

This gene encodes a mitochondrial protein that is a member of the solute carrier family. Although this protein was initially thought to be the mitochondrial deoxynucleotide carrier involved in the upt...

Pfam Domains

Mito_carraa 12–111UCSCMitochondrial carrier protein

Mito_carraa 114–206UCSCMitochondrial carrier protein

Mito_carraa 212–314UCSCMitochondrial carrier protein

Gene Aliases

HGNC Name

solute carrier family 25 member 19

HGNC Previous Symbol

MCPHA

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_001126121.2

p.S194P

c.580T>C

Surrounding Variants

5 papers

NM_001126121.2

p.Q192H

c.576G>T

6 papers

NM_001126121.2

p.Q192H

c.576G>C

1 paper

NM_001126121.2

p.L191insFs

c.572_573ins4

2 papers

NM_001126121.2

p.S197I

c.590G>T

1 paper

NM_001126121.2

p.A184P

c.550G>C

1 paper

NM_001126121.2

p.G177V

c.530G>T

20 papers

NM_001126121.2

p.G177A

c.530G>C

1 paper

NM_001126121.2

p.Y175_K176delFs

c.524_528del5

1 paper

NM_001126121.2

p.G170G

c.510C>T

4 papers

NM_001126121.2

p.E169K

c.505G>A

1 paper

NM_001126121.2

p.R167K

c.500G>A

1 paper

NM_001126121.2

p.Y166delFs

c.496delA