Varaico: Literature-Extracted Genetic Variants

UCP3

139 papers

RefSeq Summary

Mitochondrial uncoupling proteins (UCP) are members of the larger family of mitochondrial anion carrier proteins (MACP). UCPs separate oxidative phosphorylation from ATP synthesis with energy dissipat...

Pfam Domains

Mito_carraa 9–110UCSCMitochondrial carrier protein

Mito_carraa 112–211UCSCMitochondrial carrier protein

Mito_carraa 214–305UCSCMitochondrial carrier protein

Gene Aliases

HGNC Name

uncoupling protein 3

HGNC Alias Symbol

SLC25A9

Papers

RefSeq ID

Protein change

DNA change

1–12 of 89 variants

14 papers

NM_003356.4

p.V102I

c.304G>A

11 papers

NM_003356.4

p.R143*

c.427C>T

10 papers

NM_003356.4

p.R70W

c.208C>T

7 papers

NM_003356.4

p.V9M

c.25G>A

5 papers

NM_003356.4

p.G84S

c.250G>A

3 papers

NM_003356.4

p.T12I

c.35C>T

3 papers

NM_003356.4

p.G275Splc

c.824+1G>A

3 papers

NM_003356.4

p.R282C

c.844C>T

2 papers

NM_003356.4

p.P10P

c.30T>A

2 papers

NM_003356.4

p.R40H

c.119G>A

2 papers

NM_003356.4

p.T52M

c.155C>T

2 papers

NM_003356.4

p.R119Q

c.356G>A