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

2 papers

NM_001889.4

p.L108R

c.323T>G

Surrounding Variants

1 paper

NM_001889.4

p.E105G

c.314A>G

1 paper

NM_001889.4

p.H112N

c.334C>A

1 paper

NM_001889.4

p.H112Q

c.336C>G

1 paper

NM_001889.4

p.H112Q

c.336C>A

4 papers

NM_001889.4

p.V114A

c.341T>C

1 paper

NM_001889.4

p.Y115H

c.343T>C

1 paper

NM_001889.4

p.L117Q

c.350T>A

1 paper

NM_001889.4

p.E119*

c.355G>T

1 paper

NM_001889.4

p.T95S

c.284C>G

1 paper

NM_001889.4

p.T95S

c.283A>T

1 paper

NM_001889.4

p.D122N

c.364G>A

2 papers

NM_001889.4

p.F94F

c.282C>T