Varaico: Literature-Extracted Genetic Variants

Gene:CRYGC
Variant:p.Y46_Q52del0

CRYGC

181 papers

RefSeq Summary

This gene encodes a member of the beta/gamma-crystallin family of proteins. Crystallins constitute the major proteins of vertebrate eye lens and maintain the transparency and refractive index of the l...

Pfam Domains

Crystallaa 3–82UCSCBeta/Gamma crystallin
Crystallaa 89–170UCSCBeta/Gamma crystallin

Gene Aliases

HGNC Name

crystallin gamma C

HGNC Previous Symbol

CRYG3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_020989.4
p.Y46_Q52del0
c.136_156del21
Surrounding Variants
1 paper
NM_020989.4
p.G53_Q54insFs
c.157_161dup5
5 papers
NM_020989.4
p.Q55R
c.164A>G
2 papers
NM_020989.4
p.Y56*
c.168C>G
2 papers
NM_020989.4
p.Y56*
c.168C>A
16 papers
NM_020989.4
p.R48H
c.143G>A
2 papers
NM_020989.4
p.L58P
c.173T>C
1 paper
NM_020989.4
p.E47K
c.139G>A
1 paper
NM_020989.4
p.R59R
c.177G>C
7 papers
NM_020989.4
p.Y46D
c.136T>G
1 paper
NM_020989.4
p.R60fs
c.178_179fs
1 paper
NM_020989.4
p.R60Q
c.179G>A
7 papers
NM_020989.4
p.L45P
c.134T>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."