Varaico: Literature-Extracted Genetic Variants

Gene:CRYGC
Variant:p.E107A

CRYGC

181 papers

RefSeq Summary

This gene encodes a member of the beta/gamma-crystallin family of proteins. Crystallins constitute the major proteins of vertebrate eye lens and maintain the transparency and refractive index of the l...

Pfam Domains

Crystallaa 3–82UCSCBeta/Gamma crystallin
Crystallaa 89–170UCSCBeta/Gamma crystallin

Gene Aliases

HGNC Name

crystallin gamma C

HGNC Previous Symbol

CRYG3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_020989.4
p.E107A
c.320A>C
Surrounding Variants
1 paper
NM_020989.4
p.E107fs
c.319_320fs
1 paper
NM_020989.4
p.D108H
c.322G>C
2 papers
NM_020989.4
p.E107delFs
c.320_321delTT
18 papers
NM_020989.4
p.C109*
c.327C>A
1 paper
NM_020989.4
p.P110fs
c.328_329fs
1 paper
NM_020989.4
p.P110delins
c.329delinsT
1 paper
NM_020989.4
p.P110Fs
c.328_329delinsTFs
1 paper
NM_020989.4
p.E104fs
c.310_311fs
2 papers
NM_020989.4
p.M103_E104insFs
c.309_310insA
1 paper
NM_020989.4
p.P110delFs
c.328_329delGG
1 paper
NM_020989.4
p.M102I
c.306G>T
1 paper
NM_020989.4
p.M102I
c.306G>C
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