Varaico: Literature-Extracted Genetic Variants

UCP2

303 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 10–111UCSCMitochondrial carrier protein

Mito_carraa 112–208UCSCMitochondrial carrier protein

Mito_carraa 211–301UCSCMitochondrial carrier protein

Gene Aliases

HGNC Name

uncoupling protein 2

HGNC Previous Symbol

BMIQ4

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_003355.3

p.R60C

c.178C>T

Surrounding Variants

1 paper

NM_003355.3

p.R60R

c.180C>G

1 paper

NM_003355.3

p.Y59S

c.176A>C

3 papers

NM_003355.3

p.G61S

c.181G>A

2 papers

NM_003355.3

p.Q58H

c.174G>C

1 paper

NM_003355.3

p.A57T

c.169G>A

1 paper

NM_003355.3

p.M63insFs

c.187_188insA

156 papers

NM_003355.3

p.A55V

c.164C>T

1 paper

NM_003355.3

p.T65I

c.194C>T

1 paper

NM_003355.3

p.T54I

c.161C>T

1 paper

NM_003355.3

p.V51A

c.152T>C

1 paper

NM_003355.3

p.Q48P

c.143A>C

3 papers

NM_003355.3

p.S47N

c.140G>A