Varaico: Literature-Extracted Genetic Variants

CRYL1

124 papers

RefSeq Summary

The uronate cycle functions as an alternative glucose metabolic pathway, accounting for about 5% of daily glucose catabolism. The product of this gene catalyzes the dehydrogenation of L-gulonate into ...

Pfam Domains

3HCDH_Naa 8–190UCSC3-hydroxyacyl-CoA dehydrogenase, NAD binding domain

3HCDHaa 192–283UCSC3-hydroxyacyl-CoA dehydrogenase, C-terminal domain

Gene Aliases

HGNC Name

crystallin lambda 1

HGNC Alias Symbols

GDH; lambda-CRY; MGC149525; MGC149526

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_015974.3

p.N196K

c.588C>A

Surrounding Variants

1 paper

NM_015974.3

p.N196K

c.588C>G

1 paper

NM_015974.3

p.N196D

c.586A>G

1 paper

NM_015974.3

p.M176_A191del16

c.526_572del48

1 paper

NM_015974.3

p.E189K

c.565G>A

1 paper

NM_015974.3

p.R185P

c.554G>C

1 paper

NM_015974.3

p.V210V

c.630G>A

1 paper

NM_015974.3

p.E211_E212Splc

c.633+1G>A

1 paper

NM_015974.3

p.Q181P

c.542A>C

1 paper

NM_015974.3

p.A174D

c.521C>A

1 paper

NM_015974.3

p.H173H

c.519C>T

1 paper

NM_015974.3

p.D170G

c.509A>G

1 paper

NM_015974.3

p.T168A

c.502A>G