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

4 papers

NM_000159.4

p.G415Splc

c.1244-2A>G

Surrounding Variants

32 papers

NM_000159.4

p.G415Splc

c.1244-2A>C

7 papers

NM_000159.4

p.T416I

c.1247C>T

3 papers

NM_000159.4

p.H417Y

c.1249C>T

5 papers

NM_000159.4

p.H417R

c.1250A>G

5 papers

NM_000159.4

p.G415Splc

c.1244-11A>G

2 papers

NM_000159.4

p.D418V

c.1253A>T

1 paper

NM_000159.4

p.D418E

c.1254C>G

1 paper

NM_000159.4

p.I419T

c.1256T>C

1 paper

NM_000159.4

p.H420_R426delFs

c.1258_1276del19

1 paper

NM_000159.4

p.H420_T429del10

c.1258_1286del30

21 papers

NM_000159.4

p.A421T

c.1261G>A

2 papers

NM_000159.4

p.A421P

c.1261G>C