Varaico: Literature-Extracted Genetic Variants

SLC25A27

45 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 16–120UCSCMitochondrial carrier protein

Mito_carraa 123–222UCSCMitochondrial carrier protein

Mito_carraa 224–320UCSCMitochondrial carrier protein

Gene Aliases

HGNC Name

solute carrier family 25 member 27

HGNC Alias Symbols

UCP4; FLJ33552

Papers

RefSeq ID

Protein change

DNA change

1–12 of 29 variants

4 papers

NM_004277.5

p.R19*

c.55C>T

3 papers

NM_004277.5

p.D226E

c.678C>G

2 papers

NM_004277.5

p.I197T

c.590T>C

1 paper

NM_004277.5

p.L10L

c.30T>A

1 paper

NM_004277.5

p.P12S

c.34C>T

1 paper

NM_004277.5

p.A29T

c.85G>A

1 paper

NM_004277.5

p.F38fs

c.112_113fs

1 paper

NM_004277.5

p.Q48P

c.143A>C

1 paper

NM_004277.5

p.Y68*

c.204T>A

1 paper

NM_004277.5

p.Y68*

c.204T>G

1 paper

NM_004277.5

p.L76V

c.226C>G

1 paper

NM_004277.5

p.E80K

c.238G>A