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.A44G

c.131C>G

Surrounding Variants

1 paper

NM_001889.4

p.A44E

c.131C>A

1 paper

NM_001889.4

p.C45Y

c.134G>A

1 paper

NM_001889.4

p.G46S

c.136G>A

1 paper

NM_001889.4

p.V47A

c.140T>C

1 paper

NM_001889.4

p.N48Y

c.142A>T

1 paper

NM_001889.4

p.P49S

c.145C>T

1 paper

NM_001889.4

p.P49P

c.147C>T

1 paper

NM_001889.4

p.V50M

c.148G>A

1 paper

NM_001889.4

p.Q37_V38Splc

c.112-1G>T

1 paper

NM_001889.4

p.Y53F

c.158A>T

1 paper

NM_001889.4

p.R55S

c.163C>A

3 papers

NM_001889.4

p.R55H

c.164G>A