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

1–12 of 112 variants

6 papers

NM_001889.4

p.I176V

c.526A>G

4 papers

NM_001889.4

p.Y59F

c.176A>T

4 papers

NM_001889.4

p.V114A

c.341T>C

3 papers

NM_001889.4

p.A29T

c.85G>A

3 papers

NM_001889.4

p.R55H

c.164G>A

3 papers

NM_001889.4

p.Y59C

c.176A>G

3 papers

NM_001889.4

p.K88_K89Splc

c.265-1G>A

2 papers

NM_001889.4

p.G18G

c.54G>A

2 papers

NM_001889.4

p.F94F

c.282C>T

2 papers

NM_001889.4

p.L108R

c.323T>G

2 papers

NM_001889.4

p.L225fs

c.673_674fs

2 papers

NM_001889.4

p.L225delFs

c.674delA