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

1 paper

NM_000159.4

p.I233fs

c.697_698fs

Surrounding Variants

1 paper

NM_000159.4

p.I233insFs

c.697dupA

1 paper

NM_000159.4

p.G235insFs

c.704dupG

6 papers

NM_000159.4

p.R234W

c.700C>T

2 papers

NM_000159.4

p.R234Q

c.701G>A

1 paper

NM_000159.4

p.R234P

c.701G>C

3 papers

NM_000159.4

p.G235D

c.704G>A

13 papers

NM_000159.4

p.F236L

c.706T>C

2 papers

NM_000159.4

p.F236fs

c.706_707fs

11 papers

NM_000159.4

p.F236L

c.708C>A

11 papers

NM_000159.4

p.F236L

c.708C>G

1 paper

NM_000159.4

p.L238_K240del3

c.712_719del9

3 papers

NM_000159.4

p.C228F

c.683G>T