Varaico: Literature-Extracted Genetic Variants

Gene:CRYBA4
Variant:p.L69P

CRYBA4

99 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 13–97UCSCBeta/Gamma crystallin
Crystallaa 106–194UCSCBeta/Gamma crystallin

Gene Aliases

HGNC Name

crystallin beta A4

HGNC Previous Name

crystallin, beta A4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
9 papers
NM_001886.3
p.L69P
c.206T>C
Surrounding Variants
1 paper
NM_001886.3
p.I68V
c.202A>G
3 papers
NM_001886.3
p.R71*
c.211C>T
1 paper
NM_001886.3
p.R71Q
c.212G>A
1 paper
NM_001886.3
p.R71P
c.212G>C
1 paper
NM_001886.3
p.R71L
c.212G>T
2 papers
NM_001886.3
p.Y67N
c.199T>A
1 paper
NM_001886.3
p.Q66R
c.197A>G
1 paper
NM_001886.3
p.G72_E73del1
c.216_218delCGA
1 paper
NM_001886.3
p.G72G
c.216C>T
1 paper
NM_001886.3
p.E73K
c.217G>A
1 paper
NM_001886.3
p.Q65R
c.194A>G
1 paper
NM_001886.3
p.E73D
c.219A>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."