Varaico: Literature-Extracted Genetic Variants

Gene:CRYGC
Variant:p.H98P

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
1 paper
NM_020989.4
p.H98P
c.293A>C
Surrounding Variants
1 paper
NM_020989.4
p.H98R
c.293A>G
1 paper
NM_020989.4
p.E96*
c.286G>T
2 papers
NM_020989.4
p.L101F
c.301C>T
1 paper
NM_020989.4
p.Y93_E94del1
c.279_281delTCG
1 paper
NM_020989.4
p.M102I
c.306G>T
1 paper
NM_020989.4
p.M102I
c.306G>C
6 papers
NM_020989.4
p.E94K
c.280G>A
1 paper
NM_020989.4
p.M102I
c.306G>A
2 papers
NM_020989.4
p.M103_E104insFs
c.309_310insA
1 paper
NM_020989.4
p.L92insFs
c.275dupT
1 paper
NM_020989.4
p.L92fs
c.274_275fs
1 paper
NM_020989.4
p.E104fs
c.310_311fs
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