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

3 papers

NM_015974.3

p.G87G

c.261T>C

Surrounding Variants

1 paper

NM_015974.3

p.A84T

c.250G>A

1 paper

NM_015974.3

p.Q82H

c.246A>T

2 papers

NM_015974.3

p.P79delFs

c.235delG

1 paper

NM_015974.3

p.S76N

c.227G>A

1 paper

NM_015974.3

p.A59_G64delFs

c.176_191del16

1 paper

NM_015974.3

p.S61C

c.182C>G

1 paper

NM_015974.3

p.Q58Q

c.174G>A

1 paper

NM_015974.3

p.L56fs

c.166_167fs

1 paper

NM_015974.3

p.L56delFs

c.167delA

1 paper

NM_015974.3

p.L56fs

c.166_167fs

1 paper

NM_015974.3

p.L56V

c.166C>G

1 paper

NM_015974.3

p.R50Splc

c.150-2A>T