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.V112M

c.334G>A

Surrounding Variants

1 paper

NM_001126121.2

p.Y113Y

c.339T>C

1 paper

NM_001126121.2

p.E117del1

c.349_350delTTC

1 paper

NM_001126121.2

p.E105K

c.313G>A

2 papers

NM_001126121.2

p.F122C

c.365T>G

1 paper

NM_001126121.2

p.G125C

c.373G>T

11 papers

NM_001126121.2

p.G125S

c.373G>A

1 paper

NM_001126121.2

p.F97I

c.289T>A

1 paper

NM_001126121.2

p.A128V

c.383C>T

1 paper

NM_001126121.2

p.Q96_F97Splc

c.289-26G>A

1 paper

NM_001126121.2

p.H137R

c.410A>G

1 paper

NM_001126121.2

p.V139M

c.415G>A

1 paper

NM_001126121.2

p.L142P

c.425T>C