Varaico: Literature-Extracted Genetic Variants

Gene:CRYBA4
Variant:p.I109M

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
1 paper
NM_001886.3
p.I109M
c.327C>G
Surrounding Variants
2 papers
NM_001886.3
p.I109N
c.326T>A
1 paper
NM_001886.3
p.I109V
c.325A>G
1 paper
NM_001886.3
p.E111K
c.331G>A
1 paper
NM_001886.3
p.Q112*
c.334C>T
1 paper
NM_001886.3
p.L107V
c.319C>G
1 paper
NM_001886.3
p.R106K
c.317G>A
1 paper
NM_001886.3
p.E113D
c.339G>C
1 paper
NM_001886.3
p.E113D
c.339G>T
2 papers
NM_001886.3
p.S105T
c.313T>A
1 paper
NM_001886.3
p.D104G
c.311A>G
1 paper
NM_001886.3
p.F115L
c.343T>C
1 paper
NM_001886.3
p.F115L
c.345C>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."