Varaico: Literature-Extracted Genetic Variants

Gene:CRYBA1
Variant:p.G91del1

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
Selected Variant
42 papers
NM_005208.5
p.G91del1
c.271_272delGGA
Surrounding Variants
1 paper
NM_005208.5
p.R90_G91del2
c.268_272del6
1 paper
NM_005208.5
p.G91delFs
c.272delG
1 paper
NM_005208.5
p.L88M
c.262C>A
1 paper
NM_005208.5
p.L88L
c.262C>T
1 paper
NM_005208.5
p.Y93_P94del1
c.279_281delCCC
1 paper
NM_005208.5
p.P94L
c.281C>T
2 papers
NM_005208.5
p.H78R
c.233A>G
1 paper
NM_005208.5
p.N103D
c.307A>G
1 paper
NM_005208.5
p.G75D
c.224G>A
1 paper
NM_005208.5
p.H106_M111del6
c.316_332del18
2 papers
NM_005208.5
p.W73L
c.218G>T
1 paper
NM_005208.5
p.A72_W73del1
c.216_218delCTG
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