Varaico: Literature-Extracted Genetic Variants

Gene:CRYBB1
Variant:p.P27S

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.P27S
c.79C>T
Surrounding Variants
1 paper
NM_001887.4
p.G25E
c.74G>A
2 papers
NM_001887.4
p.P33S
c.97C>T
3 papers
NM_001887.4
p.G18V
c.53G>T
1 paper
NM_001887.4
p.L39V
c.115C>G
1 paper
NM_001887.4
p.A14V
c.41C>T
1 paper
NM_001887.4
p.A40T
c.118G>A
1 paper
NM_001887.4
p.T42_T43del1
c.126_128delGTT
6 papers
NM_001887.4
p.V44M
c.130G>A
1 paper
NM_001887.4
p.T43del1
c.127_128delGGT
2 papers
NM_001887.4
p.V44E
c.131T>A
3 papers
NM_001887.4
p.A9V
c.26C>T
1 paper
NM_001887.4
p.S8A
c.22T>G
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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."