Varaico: Literature-Extracted Genetic Variants

Gene:CRYGC
Variant:p.T5P

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
38 papers
NM_020989.4
p.T5P
c.13A>C
Surrounding Variants
1 paper
NM_020989.4
p.I4I
c.12C>A
1 paper
NM_020989.4
p.T5T
c.15C>A
1 paper
NM_020989.4
p.T5delFs
c.15delG
5 papers
NM_020989.4
p.F6S
c.17T>C
6 papers
NM_020989.4
p.K3_I4Splc
c.10-1G>A
1 paper
NM_020989.4
p.F6F
c.18C>T
1 paper
NM_020989.4
p.G14A
c.41G>C
3 papers
NM_020989.4
p.R15C
c.43C>T
2 papers
NM_020989.4
p.R15S
c.43C>A
1 paper
NM_020989.4
p.E18K
c.52G>A
1 paper
NM_020989.4
p.T21del1
c.61_63delAGT
4 papers
NM_020989.4
p.P24T
c.70C>A
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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."