Varaico: Literature-Extracted Genetic Variants

ACADVL

560 papers

RefSeq Summary

The protein encoded by this gene is targeted to the inner mitochondrial membrane where it catalyzes the first step of the mitochondrial fatty acid beta-oxidation pathway. This acyl-Coenzyme A dehydrog...

Pfam Domains

Acyl-CoA_dh_Naa 95–209UCSCAcyl-CoA dehydrogenase, N-terminal domain

Acyl-CoA_dh_Maa 213–315UCSCAcyl-CoA dehydrogenase, middle domain

Acyl-CoA_dh_1aa 327–476UCSCAcyl-CoA dehydrogenase, C-terminal domain

ACAD9-ACADV_Caa 527–647UCSCACAD9/ACADV, C-terminal domain

Gene Aliases

HGNC Name

acyl-CoA dehydrogenase very long chain

HGNC Alias Symbols

VLCAD; LCACD; ACAD6

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

7 papers

NM_000018.4

p.R453*

c.1357C>T

Surrounding Variants

1 paper

NM_000018.4

p.R453delins

c.1357_1359delinsTTT

15 papers

NM_000018.4

p.R453Q

c.1358G>A

NM_001270447.2

p.R476Q

c.1427G>A

1 paper

NM_000018.4

p.R453L

c.1358G>T

4 papers

NM_000018.4

p.D454N

c.1360G>A

1 paper

NM_000018.4

p.D454G

c.1361A>G

1 paper

NM_000018.4

p.D454delFs

c.1362delT

1 paper

NM_000018.4

p.V451V

c.1353G>A

1 paper

NM_000018.4

p.V451delins

c.1351_1352delinsGG

50 papers

NM_000018.4

p.R450H

c.1349G>A

2 papers

NM_000018.4

p.R456G

c.1366C>G

3 papers

NM_000018.4

p.R456C

c.1366C>T

1 paper

NM_000018.4

p.R450C

c.1348C>T