Varaico: Literature-Extracted Genetic Variants

Gene:CRYBB1
Variant:p.R60T

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
2 papers
NM_001887.4
p.R60T
c.179G>C
Surrounding Variants
1 paper
NM_001887.4
p.N58fs
c.172_173fs
2 papers
NM_001887.4
p.N58T
c.173A>C
5 papers
NM_001887.4
p.N58fs
c.172_173fs
18 papers
NM_001887.4
p.G57delFs
c.171delC
1 paper
NM_001887.4
p.G57fs
c.169_170fs
1 paper
NM_001887.4
p.P56S
c.166C>T
1 paper
NM_001887.4
p.A52A
c.156G>A
1 paper
NM_001887.4
p.A51A
c.153G>T
1 paper
NM_001887.4
p.A51P
c.151G>C
1 paper
NM_001887.4
p.A51T
c.151G>A
2 papers
NM_001887.4
p.V44E
c.131T>A
6 papers
NM_001887.4
p.V44M
c.130G>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."