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.N227D

c.679A>G

Surrounding Variants

2 papers

NM_001889.4

p.A226V

c.677C>T

2 papers

NM_001889.4

p.L225fs

c.673_674fs

2 papers

NM_001889.4

p.L225delFs

c.674delA

1 paper

NM_001889.4

p.I220V

c.658A>G

1 paper

NM_001889.4

p.G217V

c.650G>T

1 paper

NM_001889.4

p.I244_V245Splc

c.733-23A>G

1 paper

NM_001889.4

p.I244_V245Splc

c.733-1G>C

1 paper

NM_001889.4

p.R257*

c.769C>T

1 paper

NM_001889.4

p.A261T

c.781G>A

1 paper

NM_001889.4

p.K262E

c.784A>G

1 paper

NM_001889.4

p.S264L

c.791C>T

1 paper

NM_001889.4

p.T275delFs

c.825delG