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.I112F

c.334A>T

Surrounding Variants

1 paper

NM_015974.3

p.L109_D110delFs

c.325_328del4

2 papers

NM_015974.3

p.D114N

c.340G>A

2 papers

NM_015974.3

p.K104M

c.311A>T

1 paper

NM_015974.3

p.K102N

c.306G>T

1 paper

NM_015974.3

p.K102N

c.306G>C

1 paper

NM_015974.3

p.L101P

c.302T>C

1 paper

NM_015974.3

p.E100delFs

c.299_300delTT

2 papers

NM_015974.3

p.S124A

c.370T>G

1 paper

NM_015974.3

p.D98V

c.293A>T

1 paper

NM_015974.3

p.E97D

c.291A>T

1 paper

NM_015974.3

p.E97D

c.291A>C

1 paper

NM_015974.3

p.L126L

c.378C>T