Varaico: Literature-Extracted Genetic Variants

Gene:CRYGS
Variant:p.L88L

CRYGS

112 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 7–86UCSCBeta/Gamma crystallin
Crystallaa 95–176UCSCBeta/Gamma crystallin

Gene Aliases

HGNC Name

crystallin gamma S

HGNC Previous Symbol

CRYG8

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_017541.4
p.L88L
c.262C>T
Surrounding Variants
1 paper
NM_017541.4
p.L88M
c.262C>A
2 papers
NM_017541.4
p.D78G
c.233A>G
3 papers
NM_017541.4
p.G75V
c.224G>T
2 papers
NM_017541.4
p.W73L
c.218G>T
1 paper
NM_017541.4
p.Q71E
c.211C>G
6 papers
NM_017541.4
p.Y67N
c.199T>A
1 paper
NM_017541.4
p.Q64E
c.190C>G
1 paper
NM_017541.4
p.M59I
c.177G>C
12 papers
NM_017541.4
p.G57W
c.169G>T
1 paper
NM_017541.4
p.A56fs
c.166_167fs
1 paper
NM_017541.4
p.F55insFs
c.165dupT
2 papers
NM_017541.4
p.N54D
c.160A>G
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