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.Y35F

c.104A>T

Surrounding Variants

1 paper

NM_015974.3

p.L34P

c.101T>C

3 papers

NM_015974.3

p.L34H

c.101T>A

1 paper

NM_015974.3

p.Q40*

c.118C>T

1 paper

NM_015974.3

p.Q41H

c.123G>T

1 paper

NM_015974.3

p.G28*

c.82G>T

1 paper

NM_015974.3

p.N44N

c.132C>T

1 paper

NM_015974.3

p.L24L

c.72G>A

1 paper

NM_015974.3

p.L46M

c.136C>A

1 paper

NM_015974.3

p.E47K

c.139G>A

1 paper

NM_015974.3

p.R19*

c.55C>T

1 paper

NM_015974.3

p.G18W

c.52G>T