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.D122E

c.366C>A

Surrounding Variants

1 paper

NM_001889.4

p.D122E

c.366C>G

1 paper

NM_001889.4

p.F123S

c.368T>C

1 paper

NM_001889.4

p.D122N

c.364G>A

1 paper

NM_001889.4

p.K124K

c.372A>G

1 paper

NM_001889.4

p.E119*

c.355G>T

1 paper

NM_001889.4

p.L117Q

c.350T>A

1 paper

NM_001889.4

p.A128P

c.382G>C

1 paper

NM_001889.4

p.G130S

c.388G>A

1 paper

NM_001889.4

p.Y115H

c.343T>C

1 paper

NM_001889.4

p.G130V

c.389G>T

4 papers

NM_001889.4

p.V114A

c.341T>C

1 paper

NM_001889.4

p.H112Q

c.336C>G