Varaico: Literature-Extracted Genetic Variants

Gene:CRYBB1
Variant:p.G78E

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.G78E
c.233G>A
Surrounding Variants
1 paper
NM_001887.4
p.E79Q
c.235G>C
1 paper
NM_001887.4
p.S77L
c.230C>T
1 paper
NM_001887.4
p.S81*
c.242C>G
2 papers
NM_001887.4
p.E75K
c.223G>A
2 papers
NM_001887.4
p.R73L
c.218G>T
1 paper
NM_001887.4
p.A84T
c.250G>A
1 paper
NM_001887.4
p.R72H
c.215G>A
2 papers
NM_001887.4
p.D85N
c.253G>A
1 paper
NM_001887.4
p.G71G
c.213C>T
2 papers
NM_001887.4
p.G71S
c.211G>A
1 paper
NM_001887.4
p.Q70R
c.209A>G
3 papers
NM_001887.4
p.Q70P
c.209A>C
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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."