Varaico: Literature-Extracted Genetic Variants

Gene:CRYBA4
Variant:p.A53V

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.A53V
c.158C>T
Surrounding Variants
2 papers
NM_001886.3
p.A53Splc
c.158+1G>A
1 paper
NM_001886.3
p.A53Splc
c.158+1G>C
1 paper
NM_001886.3
p.A53S
c.157G>T
1 paper
NM_001886.3
p.A53Splc
c.158+1G>T
1 paper
NM_001886.3
p.A53Splc
c.158+2T>G
1 paper
NM_001886.3
p.S51N
c.152G>A
1 paper
NM_001886.3
p.K48E
c.142A>G
1 paper
NM_001886.3
p.S46Y
c.137C>A
1 paper
NM_001886.3
p.R45Q
c.134G>A
1 paper
NM_001886.3
p.R45P
c.134G>C
1 paper
NM_001886.3
p.R45L
c.134G>T
1 paper
NM_001886.3
p.R45G
c.133C>G
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