Varaico: Literature-Extracted Genetic Variants

Gene:CRYBB2
Variant:p.Y171delFs

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.Y171delFs
c.511delT
Surrounding Variants
1 paper
NM_000496.3
p.E167*
c.499G>T
1 paper
NM_000496.3
p.S175G
c.523A>G
1 paper
NM_000496.3
p.L165L
c.495G>A
1 paper
NM_000496.3
p.D176N
c.526G>A
4 papers
NM_000496.3
p.Q163*
c.487C>T
1 paper
NM_000496.3
p.A179D
c.536C>A
3 papers
NM_000496.3
p.G161G
c.483G>A
2 papers
NM_000496.3
p.G161R
c.481G>A
2 papers
NM_000496.3
p.G161R
c.481G>C
1 paper
NM_000496.3
p.R160P
c.479G>C
1 paper
NM_000496.3
p.R160C
c.478C>T
5 papers
NM_000496.3
p.Y159*
c.477C>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."