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

1–12 of 92 variants

20 papers

NM_001126121.2

p.G177A

c.530G>C

11 papers

NM_001126121.2

p.G125S

c.373G>A

6 papers

NM_001126121.2

p.Q192H

c.576G>C

5 papers

NM_001126121.2

p.Q192H

c.576G>T

4 papers

NM_001126121.2

p.E169K

c.505G>A

4 papers

NM_001126121.2

p.L290Q

c.869T>A

3 papers

NM_001126121.2

p.M165I

c.495G>T

3 papers

NM_001126121.2

p.M165I

c.495G>C

3 papers

NM_001126121.2

p.M165I

c.495G>A

3 papers

NM_001126121.2

p.S194P

c.580T>C

3 papers

NM_001126121.2

p.E304K

c.910G>A

2 papers

NM_001126121.2

p.A65V

c.194C>T