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

1 paper

NM_001126121.2

p.W79R

c.235T>C

Surrounding Variants

1 paper

NM_001126121.2

p.W79R

c.235T>A

1 paper

NM_001126121.2

p.H82Y

c.244C>T

1 paper

NM_001126121.2

p.P75L

c.224C>T

1 paper

NM_001126121.2

p.I87M

c.261T>G

1 paper

NM_001126121.2

p.G91_Y92insFs

c.273_274insA

2 papers

NM_001126121.2

p.A65V

c.194C>T

1 paper

NM_001126121.2

p.G93R

c.277G>C

1 paper

NM_001126121.2

p.G93G

c.279A>G

1 paper

NM_001126121.2

p.A57delFs

c.169delC

1 paper

NM_001126121.2

p.A57P

c.169G>C

1 paper

NM_001126121.2

p.A57T

c.169G>A

1 paper

NM_001126121.2

p.P55R

c.164C>G