Varaico: Literature-Extracted Genetic Variants

ACADL

289 papers

RefSeq Summary

The protein encoded by this gene belongs to the acyl-CoA dehydrogenase family, which is a family of mitochondrial flavoenzymes involved in fatty acid and branched chain amino-acid metabolism. This pro...

Pfam Domains

Acyl-CoA_dh_Naa 54–165UCSCAcyl-CoA dehydrogenase, N-terminal domain

Acyl-CoA_dh_Maa 169–266UCSCAcyl-CoA dehydrogenase, middle domain

Acyl-CoA_dh_1aa 278–427UCSCAcyl-CoA dehydrogenase, C-terminal domain

Gene Aliases

HGNC Name

acyl-CoA dehydrogenase long chain

HGNC Alias Symbols

LCAD; ACAD4

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001608.4

p.K318R

c.953A>G

Surrounding Variants

1 paper

NM_001608.4

p.A319D

c.956C>A

1 paper

NM_001608.4

p.K322R

c.965A>G

2 papers

NM_001608.4

p.N312ins4

c.935_936ins12

1 paper

NM_001608.4

p.T310_R311Fs

c.928_933delinsCATGAATGTTATGTTTFs

1 paper

NM_001608.4

p.R311M

c.932G>T

3 papers

NM_001608.4

p.T310fs

c.928_929fs

3 papers

NM_001608.4

p.T310delFs

c.928_929delGT

2 papers

NM_001608.4

p.T310fs

c.928_929fs

1 paper

NM_001608.4

p.F307delFs

c.920_921delAA

1 paper

NM_001608.4

p.E304_M306delFs

c.911_918del8

1 paper

NM_001608.4

p.E304fs

c.910_911fs

1 paper

NM_001608.4

p.S301P

c.901T>C