Varaico: Literature-Extracted Genetic Variants

Gene:CRYBA1

CRYBA1

134 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 32–116UCSCBeta/Gamma crystallin
Crystallaa 125–213UCSCBeta/Gamma crystallin

Gene Aliases

HGNC Name

crystallin beta A1

HGNC Previous Symbol

CRYB1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 93 variants
42 papers
NM_005208.5
p.G91del1
c.271_272delGGA
28 papers
NM_005208.5
p.A72Splc
c.215+1G>A
12 papers
NM_005208.5
p.A72Splc
c.215+1G>C
7 papers
NM_005208.5
p.A72Splc
c.215+1G>T
6 papers
NM_005208.5
p.P23T
c.67C>A
5 papers
NM_005208.5
p.A72Splc
c.215+2T>G
5 papers
NM_005208.5
p.G159S
c.475G>A
5 papers
NM_005208.5
p.S209W
c.626C>G
4 papers
NM_005208.5
p.G152G
c.456C>T
4 papers
NM_005208.5
p.W198*
c.593G>A
3 papers
NM_005208.5
p.P25L
c.74C>T
3 papers
NM_005208.5
p.R58H
c.173G>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."