Varaico: Literature-Extracted Genetic Variants

CPT2

656 papers

RefSeq Summary

The protein encoded by this gene is a nuclear protein which is transported to the mitochondrial inner membrane. Together with carnitine palmitoyltransferase I, the encoded protein oxidizes long-chain ...

Pfam Domains

Carn_acyltransfaa 52–525UCSCCholine/Carnitine o-acyltransferase

Carn_acyltransfaa 520–619UCSCCholine/Carnitine o-acyltransferase

Gene Aliases

HGNC Name

carnitine palmitoyltransferase 2

HGNC Previous Symbol

CPT1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000098.3

p.G90R

c.268G>A

Surrounding Variants

1 paper

NM_000098.3

p.G90delFs

c.270delG

1 paper

NM_000098.3

p.I91fs

c.271_272fs

1 paper

NM_000098.3

p.S86fs

c.256_257fs

3 papers

NM_000098.3

p.S86delFs

c.256_257delAG

1 paper

NM_000098.3

p.L95V

c.283C>G

1 paper

NM_000098.3

p.C84Y

c.251G>A

1 paper

NM_000098.3

p.H96N

c.286C>A

3 papers

NM_000098.3

p.C84R

c.250T>C

1 paper

NM_000098.3

p.H96L

c.287A>T

1 paper

NM_000098.3

p.E81fs

c.241_242fs

1 paper

NM_000098.3

p.T80T

c.240A>T

1 paper

NM_000098.3

p.L99P

c.296T>C