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.R243W

c.727C>T

Surrounding Variants

1 paper

NM_001126121.2

p.L244P

c.731T>C

2 papers

NM_001126121.2

p.F249I

c.745T>A

1 paper

NM_001126121.2

p.Y235F

c.704A>T

1 paper

NM_001126121.2

p.H251Y

c.751C>T

1 paper

NM_001126121.2

p.G225R

c.673G>A

1 paper

NM_001126121.2

p.C222C

c.666T>C

1 paper

NM_001126121.2

p.N219S

c.656A>G

2 papers

NM_001126121.2

p.S197I

c.590G>T

3 papers

NM_001126121.2

p.S194P

c.580T>C

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