Varaico: Literature-Extracted Genetic Variants

Gene:CRYBA2
Variant:p.S106R

CRYBA2

53 papers

RefSeq Summary

Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of the vertebrate eye, which function to maintain the transparenc...

Pfam Domains

Crystallaa 13–98UCSCBeta/Gamma crystallin
Crystallaa 107–195UCSCBeta/Gamma crystallin

Gene Aliases

HGNC Name

crystallin beta A2

HGNC Previous Name

crystallin, beta A2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_057093.2
p.S106R
c.316A>C
Surrounding Variants
1 paper
NM_057093.2
p.S106R
c.318C>G
1 paper
NM_057093.2
p.S106R
c.318C>A
1 paper
NM_057093.2
p.E112fs
c.334_335fs
5 papers
NM_057093.2
p.N115D
c.343A>G
1 paper
NM_057093.2
p.L123I
c.367C>A
1 paper
NM_057093.2
p.L130L
c.388C>T
1 paper
NM_057093.2
p.G134S
c.400G>A
1 paper
NM_057093.2
p.W135*
c.404G>A
1 paper
NM_057093.2
p.W135*
c.405G>A
1 paper
NM_057093.2
p.K138N
c.414G>T
1 paper
NM_057093.2
p.K138N
c.414G>C
1 paper
NM_057093.2
p.L143F
c.427C>T
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