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

4 papers

NM_001889.4

p.Y59F

c.176A>T

Surrounding Variants

3 papers

NM_001889.4

p.Y59C

c.176A>G

1 paper

NM_001889.4

p.T58I

c.173C>T

1 paper

NM_001889.4

p.T58A

c.172A>G

1 paper

NM_001889.4

p.T58P

c.172A>C

1 paper

NM_001889.4

p.S56F

c.167C>T

3 papers

NM_001889.4

p.R55H

c.164G>A

1 paper

NM_001889.4

p.R55S

c.163C>A

1 paper

NM_001889.4

p.L64F

c.190C>T

1 paper

NM_001889.4

p.Y53F

c.158A>T

1 paper

NM_001889.4

p.P66S

c.196C>T

1 paper

NM_001889.4

p.T68N

c.203C>A

1 paper

NM_001889.4

p.V50M

c.148G>A