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.P96L

c.287C>T

Surrounding Variants

1 paper

NM_015974.3

p.P96S

c.286C>T

1 paper

NM_015974.3

p.E97Q

c.289G>C

1 paper

NM_015974.3

p.V95L

c.283G>C

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.D98V

c.293A>T

1 paper

NM_015974.3

p.E100delFs

c.299_300delTT

1 paper

NM_015974.3

p.L101P

c.302T>C

1 paper

NM_015974.3

p.K102N

c.306G>T

1 paper

NM_015974.3

p.K102N

c.306G>C

2 papers

NM_015974.3

p.K104M

c.311A>T

1 paper

NM_015974.3

p.L109_D110delFs

c.325_328del4