Varaico: Literature-Extracted Genetic Variants

SLC25A46

136 papers

RefSeq Summary

This gene encodes a mitochondrial solute carrier protein family member. It functions in promoting mitochondrial fission, and prevents the formation of hyperfilamentous mitochondria. Mutation of this g...

Pfam Domains

Mito_carraa 95–183UCSCMitochondrial carrier protein

Mito_carraa 311–417UCSCMitochondrial carrier protein

Gene Aliases

HGNC Name

solute carrier family 25 member 46

HGNC Previous Name

solute carrier family 25, member 46

Papers

RefSeq ID

Protein change

DNA change

1–12 of 276 variants

17 papers

NM_138773.4

p.R340C

c.1018C>T

14 papers

NM_138773.4

p.G249D

c.746G>A

11 papers

NM_138773.4

p.E335D

c.1005A>C

11 papers

NM_138773.4

p.E335D

c.1005A>T

10 papers

NM_138773.4

p.T142I

c.425C>T

9 papers

NM_138773.4

p.P333L

c.998C>T

7 papers

NM_138773.4

p.E95Splc

c.283+3G>T

7 papers

NM_138773.4

p.H137R

c.410A>G

7 papers

NM_138773.4

p.L341P

c.1022T>C

6 papers

NM_138773.4

p.L138R

c.413T>G

6 papers

NM_138773.4

p.K256R

c.767A>G

5 papers

NM_138773.4

p.H56fs

c.166_167fs