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

2 papers

NM_000159.4

p.G390W

c.1168G>T

Surrounding Variants

10 papers

NM_000159.4

p.G390R

c.1168G>A

11 papers

NM_000159.4

p.G390R

c.1168G>C

1 paper

NM_000159.4

p.G390insFs

c.1168_1169insC

7 papers

NM_000159.4

p.G390E

c.1169G>A

13 papers

NM_000159.4

p.G390A

c.1169G>C

5 papers

NM_000159.4

p.G390V

c.1169G>T

6 papers

NM_000159.4

p.G391insFs

c.1173dupG

8 papers

NM_000159.4

p.G391delFs

c.1173delG

1 paper

NM_000159.4

p.L389fs

c.1165_1166fs

2 papers

NM_000159.4

p.G391insFs

c.1172_1173insT

2 papers

NM_000159.4

p.G391V

c.1172G>T

3 papers

NM_000159.4

p.G391_N392insFs

c.1173_1174insT