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

6 papers

NM_001889.4

p.I176V

c.526A>G

Surrounding Variants

1 paper

NM_001889.4

p.K175R

c.524A>G

1 paper

NM_001889.4

p.L174S

c.521T>C

1 paper

NM_001889.4

p.A171V

c.512C>T

1 paper

NM_001889.4

p.A169D

c.506C>A

1 paper

NM_001889.4

p.A169S

c.505G>T

1 paper

NM_001889.4

p.G185R

c.553G>C

1 paper

NM_001889.4

p.G185R

c.553G>A

1 paper

NM_001889.4

p.Q186H

c.558A>T

1 paper

NM_001889.4

p.K187R

c.560A>G

1 paper

NM_001889.4

p.V189I

c.565G>A

1 paper

NM_001889.4

p.Q191_N192insFs

c.573_574insC

1 paper

NM_001889.4

p.V197M

c.589G>A