Varaico: Literature-Extracted Genetic Variants

Gene:CRYGC
Variant:p.Y56*

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
2 papers
NM_020989.4
p.Y56*
c.168C>G
Surrounding Variants
2 papers
NM_020989.4
p.Y56*
c.168C>A
5 papers
NM_020989.4
p.Q55R
c.164A>G
2 papers
NM_020989.4
p.L58P
c.173T>C
1 paper
NM_020989.4
p.G53_Q54insFs
c.157_161dup5
1 paper
NM_020989.4
p.R59R
c.177G>C
1 paper
NM_020989.4
p.R60fs
c.178_179fs
1 paper
NM_020989.4
p.R60Q
c.179G>A
1 paper
NM_020989.4
p.Y46_Q52del0
c.136_156del21
2 papers
NM_020989.4
p.R60delFs
c.179delC
3 papers
NM_020989.4
p.G61R
c.181G>A
2 papers
NM_020989.4
p.Y63H
c.187T>C
1 paper
NM_020989.4
p.G61_Y63del3
c.181_188del9
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."