Varaico: Literature-Extracted Genetic Variants

GCDH

463 papers

RefSeq Summary

The protein encoded by this gene belongs to the acyl-CoA dehydrogenase family. It catalyzes the oxidative decarboxylation of glutaryl-CoA to crotonyl-CoA and CO(2) in the degradative pathway of L-lysi...

Pfam Domains

Acyl-CoA_dh_Naa 61–172UCSCAcyl-CoA dehydrogenase, N-terminal domain

Acyl-CoA_dh_Maa 176–269UCSCAcyl-CoA dehydrogenase, middle domain

Acyl-CoA_dh_1aa 287–429UCSCAcyl-CoA dehydrogenase, C-terminal domain

Gene Aliases

HGNC Name

glutaryl-CoA dehydrogenase

HGNC Alias Symbols

ACAD5; GCD

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

5 papers

NM_000159.4

p.Q333E

c.997C>G

Surrounding Variants

2 papers

NM_000159.4

p.Q333*

c.997C>T

1 paper

NM_000159.4

p.K335del1

c.1003_1005delAAG

2 papers

NM_000159.4

p.Q330*

c.988C>T

1 paper

NM_000159.4

p.N329S

c.986A>G

3 papers

NM_000159.4

p.N329D

c.985A>G

4 papers

NM_000159.4

p.A337A

c.1011A>G

6 papers

NM_000159.4

p.M339V

c.1015A>G

5 papers

NM_000159.4

p.A327T

c.979G>A

5 papers

NM_000159.4

p.M339T

c.1016T>C

5 papers

NM_000159.4

p.L340F

c.1018C>T

1 paper

NM_000159.4

p.T341delFs

c.1021delA

3 papers

NM_000159.4

p.T341P

c.1021A>C