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.W132*

c.395G>A

Surrounding Variants

2 papers

NM_178526.5

p.W132*

c.396G>A

1 paper

NM_178526.5

p.W132R

c.394T>A

1 paper

NM_178526.5

p.W132R

c.394T>C

1 paper

NM_178526.5

p.A128G

c.383C>G

2 papers

NM_178526.5

p.A160T

c.478G>A

2 papers

NM_178526.5

p.P163R

c.488C>G

1 paper

NM_178526.5

p.E127Splc

c.380+3G>A

5 papers

NM_178526.5

p.E127Splc

c.380+2T>A

1 paper

NM_178526.5

p.A104S

c.310G>T

1 paper

NM_178526.5

p.Y103*

c.309C>G

1 paper

NM_178526.5

p.R75Q

c.224G>A

1 paper

NM_178526.5

p.S64C

c.191C>G