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

1 paper

NM_178526.5

p.E180K

c.538G>A

Surrounding Variants

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

1 paper

NM_178526.5

p.F174_I175del1

c.522_524delCAT

1 paper

NM_178526.5

p.P192S

c.574C>T

2 papers

NM_178526.5

p.P163R

c.488C>G

2 papers

NM_178526.5

p.A160T

c.478G>A

2 papers

NM_178526.5

p.W132*

c.396G>A

2 papers

NM_178526.5

p.W132*

c.395G>A

1 paper

NM_178526.5

p.W132R

c.394T>A

1 paper

NM_178526.5

p.W132R

c.394T>C