Varaico: Literature-Extracted Genetic Variants

CRYZ

199 papers

RefSeq Summary

Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refract...

Pfam Domains

ADH_Naa 34–119UCSCAlcohol dehydrogenase GroES-like domain

ADH_zinc_N_2aa 192–327UCSCZinc-binding dehydrogenase

Gene Aliases

HGNC Name

crystallin zeta

HGNC Previous Name

crystallin, zeta (quinone reductase)

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001889.4

p.A2V

c.5C>T

Surrounding Variants

1 paper

NM_001889.4

p.M1I

c.3G>T

1 paper

NM_001889.4

p.M1I

c.3G>C

1 paper

NM_001889.4

p.M1I

c.3G>A

1 paper

NM_001889.4

p.T3I

c.8C>T

1 paper

NM_001889.4

p.Q5H

c.15G>C

1 paper

NM_001889.4

p.K6R

c.17A>G

1 paper

NM_001889.4

p.L7V

c.19T>G

1 paper

NM_001889.4

p.L7S

c.20T>C

1 paper

NM_001889.4

p.F16S

c.47T>C

1 paper

NM_001889.4

p.G17C

c.49G>T

2 papers

NM_001889.4

p.G18G

c.54G>A

1 paper

NM_001889.4

p.V21_L22insFs

c.63_64ins13