Varaico: Literature-Extracted Genetic Variants

Gene:CRYBB1
Variant:p.P100Splc

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.P100Splc
c.299+2T>G
Surrounding Variants
1 paper
NM_001887.4
p.P100Splc
c.299+1G>T
1 paper
NM_001887.4
p.P100Splc
c.299+1G>C
1 paper
NM_001887.4
p.A98V
c.293C>T
1 paper
NM_001887.4
p.P100Splc
c.299+16C>A
7 papers
NM_001887.4
p.V96F
c.286G>T
1 paper
NM_001887.4
p.I94N
c.281T>A
5 papers
NM_001887.4
p.S93R
c.279C>G
5 papers
NM_001887.4
p.S93R
c.279C>A
5 papers
NM_001887.4
p.S93R
c.277A>C
1 paper
NM_001887.4
p.F88F
c.264C>T
2 papers
NM_001887.4
p.D85N
c.253G>A
1 paper
NM_001887.4
p.A84T
c.250G>A
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