Varaico: Literature-Extracted Genetic Variants

SLC25A42

41 papers

RefSeq Summary

This gene encodes a solute carrier family 25 protein. Solute carrier family 25 proteins are localized to mitochondria and play critical roles in the transport of molecules across the inner mitochondri...

Pfam Domains

Mito_carraa 29–122UCSCMitochondrial carrier protein

Mito_carraa 127–219UCSCMitochondrial carrier protein

Mito_carraa 222–317UCSCMitochondrial carrier protein

Gene Aliases

HGNC Name

solute carrier family 25 member 42

HGNC Alias Symbol

MGC26694

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_178526.5

p.E228K

c.682G>A

Surrounding Variants

1 paper

NM_178526.5

p.P226S

c.676C>T

1 paper

NM_178526.5

p.R252Q

c.755G>A

1 paper

NM_178526.5

p.R276Q

c.827G>A

1 paper

NM_178526.5

p.L284F

c.850C>T

1 paper

NM_178526.5

p.S289S

c.867C>T

16 papers

NM_178526.5

p.N291D

c.871A>G

1 paper

NM_178526.5

p.P192S

c.574C>T

1 paper

NM_178526.5

p.E180K

c.538G>A

1 paper

NM_178526.5

p.R179*

c.535A>T

1 paper

NM_178526.5

p.S178*

c.533C>A

3 papers

NM_178526.5

p.I175fs

c.523_524fs

2 papers

NM_178526.5

p.I175_R176delFs

c.523_526del4