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

1–12 of 92 variants

5 papers

NM_015974.3

p.G247R

c.739G>C

3 papers

NM_015974.3

p.L34H

c.101T>A

3 papers

NM_015974.3

p.G87G

c.261T>C

2 papers

NM_015974.3

p.P79delFs

c.235delG

2 papers

NM_015974.3

p.K104M

c.311A>T

2 papers

NM_015974.3

p.D114N

c.340G>A

2 papers

NM_015974.3

p.S124A

c.370T>G

2 papers

NM_015974.3

p.H145Q

c.435T>G

2 papers

NM_015974.3

p.H145Q

c.435T>A

2 papers

NM_015974.3

p.P154L

c.461C>T

2 papers

NM_015974.3

p.E157Q

c.469G>C

2 papers

NM_015974.3

p.G247Splc

c.740-2A>G