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

3 papers

NM_001889.4

p.A29T

c.85G>A

Surrounding Variants

1 paper

NM_001889.4

p.A29S

c.85G>T

1 paper

NM_001889.4

p.P31A

c.91C>G

1 paper

NM_001889.4

p.P31L

c.92C>T

1 paper

NM_001889.4

p.P31P

c.93G>A

1 paper

NM_001889.4

p.P33T

c.97C>A

1 paper

NM_001889.4

p.K23_L24insFs

c.69_70ins38

1 paper

NM_001889.4

p.K34N

c.102A>C

1 paper

NM_001889.4

p.V21_L22insFs

c.63_64ins13

1 paper

NM_001889.4

p.Q37E

c.109C>G

2 papers

NM_001889.4

p.G18G

c.54G>A

1 paper

NM_001889.4

p.G17C

c.49G>T

1 paper

NM_001889.4

p.F16S

c.47T>C