Varaico: Literature-Extracted Genetic Variants

Gene:CRYBB2
Variant:p.I19I

CRYBB2

223 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 18–100UCSCBeta/Gamma crystallin
Crystallaa 108–190UCSCBeta/Gamma crystallin

Gene Aliases

HGNC Name

crystallin beta B2

HGNC Previous Symbols

CCA2; CRYB2A; CRYB2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000496.3
p.I19I
c.57C>T
Surrounding Variants
3 papers
NM_000496.3
p.I21del1
c.61_63delATC
6 papers
NM_000496.3
p.I21N
c.62T>A
1 paper
NM_000496.3
p.E23delFs
c.67delG
1 paper
NM_000496.3
p.E23Q
c.67G>C
1 paper
NM_000496.3
p.Q24K
c.70C>A
1 paper
NM_000496.3
p.N26I
c.77A>T
12 papers
NM_000496.3
p.S31W
c.92C>G
2 papers
NM_000496.3
p.S31L
c.92C>T
1 paper
NM_000496.3
p.G36_P39delins
c.107_115delinsCGAGTTTCCAACCTGAAGTTT
1 paper
NM_000496.3
p.P39R
c.116C>G
1 paper
NM_000496.3
p.P39L
c.116C>T
2 papers
NM_000496.3
p.G45A
c.134G>C
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