Varaico: Literature-Extracted Genetic Variants

Gene:CRYBB2
Variant:p.E47E

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
1 paper
NM_000496.3
p.E47E
c.141G>A
Surrounding Variants
1 paper
NM_000496.3
p.E47K
c.139G>A
1 paper
NM_000496.3
p.V46E
c.137T>A
1 paper
NM_000496.3
p.A49V
c.146C>T
1 paper
NM_000496.3
p.V46M
c.136G>A
2 papers
NM_000496.3
p.G45A
c.134G>C
1 paper
NM_000496.3
p.S51F
c.152C>T
1 paper
NM_000496.3
p.L53P
c.158T>C
1 paper
NM_000496.3
p.V54E
c.161T>A
1 paper
NM_000496.3
p.P39R
c.116C>G
1 paper
NM_000496.3
p.P39L
c.116C>T
1 paper
NM_000496.3
p.A56delFs
c.167delC
1 paper
NM_000496.3
p.P58L
c.173C>T
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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."