Varaico: Literature-Extracted Genetic Variants

Gene:CRYBA4
Variant:p.F94S

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
8 papers
NM_001886.3
p.F94S
c.281T>C
Surrounding Variants
1 paper
NM_001886.3
p.S93S
c.279C>G
1 paper
NM_001886.3
p.R95W
c.283C>T
1 paper
NM_001886.3
p.R95Q
c.284G>A
1 paper
NM_001886.3
p.R95L
c.284G>T
2 papers
NM_001886.3
p.S93P
c.277T>C
1 paper
NM_001886.3
p.T92N
c.275C>A
1 paper
NM_001886.3
p.T92I
c.275C>T
1 paper
NM_001886.3
p.A97V
c.290C>T
1 paper
NM_001886.3
p.L91_T92del1
c.272_274delTCA
1 paper
NM_001886.3
p.L91del1
c.271_273delCTC
1 paper
NM_001886.3
p.R90K
c.269G>A
1 paper
NM_001886.3
p.C99S
c.295T>A
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