Varaico: Literature-Extracted Genetic Variants

CPT1A

365 papers

RefSeq Summary

The mitochondrial oxidation of long-chain fatty acids is initiated by the sequential action of carnitine palmitoyltransferase I (which is located in the outer membrane and is detergent-labile) and car...

Pfam Domains

CPT_Naa 1–47UCSCCarnitine O-palmitoyltransferase N-terminus

Carn_acyltransfaa 174–756UCSCCholine/Carnitine o-acyltransferase

Gene Aliases

HGNC Name

carnitine palmitoyltransferase 1A

HGNC Previous Symbol

CPT1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

7 papers

NM_001876.4

p.F734S

c.2201T>C

Surrounding Variants

2 papers

NM_001876.4

p.N733S

c.2198A>G

1 paper

NM_001876.4

p.K739E

c.2215A>G

1 paper

NM_001876.4

p.E729_N730insTT

c.2185_2189ins6

2 papers

NM_001876.4

p.E729_S741del13

c.2185_2222del39

1 paper

NM_001876.4

p.C742F

c.2225G>T

1 paper

NM_001876.4

p.T745M

c.2234C>T

4 papers

NM_001876.4

p.G719D

c.2156G>A

1 paper

NM_001876.4

p.G719C

c.2155G>T

1 paper

NM_001876.4

p.P714_V715Splc

c.2142+93C>T

1 paper

NM_001876.4

p.F712delFs

c.2136delA

1 paper

NM_001876.4

p.F712fs

c.2134_2135fs

1 paper

NM_001876.4

p.G711D

c.2132G>A