Varaico: Literature-Extracted Genetic Variants

Gene:CRYGN

CRYGN

20 papers

RefSeq Summary

This gene encodes a member of the crystallin family of proteins that are localized to the refractive structure of vertebrate eye lenses. The protein encoded by this gene is unique in that it has both ...

Pfam Domains

Crystallaa 7–88UCSCBeta/Gamma crystallin

Gene Aliases

HGNC Name

crystallin gamma N

HGNC Previous Name

crystallin, gamma N

Papers
RefSeq ID
Protein change
DNA change
1–12 of 18 variants
2 papers
NM_144727.3
p.N53S
c.158A>G
1 paper
NM_144727.3
p.S5A
c.13T>G
1 paper
NM_144727.3
p.Y11C
c.32A>G
1 paper
NM_144727.3
p.G13A
c.38G>C
1 paper
NM_144727.3
p.G18V
c.53G>T
1 paper
NM_144727.3
p.R33R
c.97C>A
1 paper
NM_144727.3
p.R38*
c.112C>T
1 paper
NM_144727.3
p.V44M
c.130G>A
1 paper
NM_144727.3
p.F72V
c.214T>G
1 paper
NM_144727.3
p.R96C
c.286C>T
1 paper
NM_144727.3
p.R96H
c.287G>A
1 paper
NM_144727.3
p.E98K
c.292G>A
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