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

1–12 of 32 variants

16 papers

NM_178526.5

p.N291D

c.871A>G

5 papers

NM_178526.5

p.E127Splc

c.380+2T>A

3 papers

NM_178526.5

p.I175fs

c.523_524fs

2 papers

NM_178526.5

p.P9L

c.26C>T

2 papers

NM_178526.5

p.S39P

c.115T>C

2 papers

NM_178526.5

p.W132*

c.395G>A

2 papers

NM_178526.5

p.W132*

c.396G>A

2 papers

NM_178526.5

p.A160T

c.478G>A

2 papers

NM_178526.5

p.P163R

c.488C>G

2 papers

NM_178526.5

p.I175_R176delFs

c.523_526del4

2 papers

NM_178526.5

p.E228K

c.682G>A

1 paper

NM_178526.5

p.E7V

c.20A>T