Varaico: Literature-Extracted Genetic Variants

Gene:CRYBB2
Variant:p.E78G

CRYBB2

223 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

Crystallaa 18–100UCSCBeta/Gamma crystallin
Crystallaa 108–190UCSCBeta/Gamma crystallin

Gene Aliases

HGNC Name

crystallin beta B2

HGNC Previous Symbols

CCA2; CRYB2A; CRYB2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_000496.3
p.E78G
c.233A>G
Surrounding Variants
2 papers
NM_000496.3
p.G77D
c.230G>A
1 paper
NM_000496.3
p.G77V
c.230G>T
1 paper
NM_000496.3
p.R81C
c.241C>T
1 paper
NM_000496.3
p.F74L
c.220T>C
1 paper
NM_000496.3
p.V73E
c.218T>A
1 paper
NM_000496.3
p.Q71R
c.212A>G
1 paper
NM_000496.3
p.S88S
c.264C>T
1 paper
NM_000496.3
p.R89*
c.265C>T
1 paper
NM_000496.3
p.T91del1
c.271_273delACG
1 paper
NM_000496.3
p.T91T
c.273G>A
1 paper
NM_000496.3
p.A65S
c.193G>T
1 paper
NM_000496.3
p.Q64delFs
c.192delG
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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."