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

12 papers

NM_000159.4

p.R386*

c.1156C>T

Surrounding Variants

10 papers

NM_000159.4

p.R386G

c.1156C>G

16 papers

NM_000159.4

p.R386Q

c.1157G>A

1 paper

NM_000159.4

p.D387_M388del2

c.1159_1163del6

1 paper

NM_000159.4

p.D387_N392delFs

c.1161_1174del14

3 papers

NM_000159.4

p.A385V

c.1154C>T

2 papers

NM_000159.4

p.A385T

c.1153G>A

2 papers

NM_000159.4

p.D387N

c.1159G>A

1 paper

NM_000159.4

p.D387fs

c.1159_1160fs

1 paper

NM_000159.4

p.M388T

c.1163T>C

7 papers

NM_000159.4

p.R383H

c.1148G>A

4 papers

NM_000159.4

p.R383S

c.1147C>A

1 paper

NM_000159.4

p.L389fs

c.1165_1166fs