Varaico: Literature-Extracted Genetic Variants

Gene:CRYBB1
Variant:p.V63del1

CRYBB1

191 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 60–142UCSCBeta/Gamma crystallin
Crystallaa 150–232UCSCBeta/Gamma crystallin

Gene Aliases

HGNC Name

crystallin beta B1

HGNC Previous Name

crystallin, beta B1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001887.4
p.V63del1
c.187_188delGAC
Surrounding Variants
1 paper
NM_001887.4
p.F64C
c.191T>G
1 paper
NM_001887.4
p.F64S
c.191T>C
1 paper
NM_001887.4
p.V63V
c.189C>T
1 paper
NM_001887.4
p.V62_V63del1
c.186_188delACC
3 papers
NM_001887.4
p.E65K
c.193G>A
1 paper
NM_001887.4
p.F64del1
c.190_191delGAA
1 paper
NM_001887.4
p.E65A
c.194A>C
1 paper
NM_001887.4
p.L61P
c.182T>C
3 papers
NM_001887.4
p.Q70E
c.208C>G
1 paper
NM_001887.4
p.Q70R
c.209A>G
3 papers
NM_001887.4
p.Q70P
c.209A>C
2 papers
NM_001887.4
p.G71S
c.211G>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."