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

5 papers

NM_015974.3

p.G247R

c.739G>C

Surrounding Variants

1 paper

NM_015974.3

p.G247Splc

c.740-1G>A

2 papers

NM_015974.3

p.G247Splc

c.740-2A>G

1 paper

NM_015974.3

p.A275A

c.825C>G

1 paper

NM_015974.3

p.E293K

c.877G>A

2 papers

NM_015974.3

p.R299K

c.896G>A

1 paper

NM_015974.3

p.Q300*

c.898C>T

1 paper

NM_015974.3

p.R299_Q300del2

c.895_899del6

1 paper

NM_015974.3

p.L309R

c.926T>G

1 paper

NM_015974.3

p.A310V

c.929C>T

1 paper

NM_015974.3

p.Q315*

c.943C>T

1 paper

NM_015974.3

p.G247Splc

c.739+3A>T

1 paper

NM_015974.3

p.E239A

c.716A>C