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.S288C

c.862A>T

Surrounding Variants

1 paper

NM_001126121.2

p.L289L

c.867G>A

1 paper

NM_001126121.2

p.S286F

c.857C>T

4 papers

NM_001126121.2

p.L290Q

c.869T>A

1 paper

NM_001126121.2

p.F281C

c.842T>G

1 paper

NM_001126121.2

p.L273L

c.819G>A

3 papers

NM_001126121.2

p.E304K

c.910G>A

1 paper

NM_001126121.2

p.F306L

c.916T>C

1 paper

NM_001126121.2

p.F306L

c.918C>G

1 paper

NM_001126121.2

p.F306L

c.918C>A

1 paper

NM_001126121.2

p.R261_Y262Fs

c.782_786delinsGAAAAGFs

1 paper

NM_001126121.2

p.Q258_V259Splc

c.775-1G>C

1 paper

NM_001126121.2

p.H251Y

c.751C>T