Varaico: Literature-Extracted Genetic Variants

Gene:CRYBB2
Variant:p.M1K

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.M1K
c.2T>A
Surrounding Variants
1 paper
NM_000496.3
p.M1T
c.2T>C
1 paper
NM_000496.3
p.M1I
c.3G>A
12 papers
NM_000496.3
p.A2V
c.5C>T
1 paper
NM_000496.3
p.D4N
c.10G>A
1 paper
NM_000496.3
p.D4_H5insFs
c.12_13insC
1 paper
NM_000496.3
p.H5delFs
c.15delC
4 papers
NM_000496.3
p.A9V
c.26C>T
1 paper
NM_000496.3
p.A9A
c.27G>A
2 papers
NM_000496.3
p.P12S
c.34C>T
1 paper
NM_000496.3
p.S14T
c.40T>A
1 paper
NM_000496.3
p.K18M
c.53A>T
5 papers
NM_000496.3
p.K18K
c.54G>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."