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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CRYGA

CRYGA

70 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 3–82UCSCBeta/Gamma crystallin

Crystallaa 89–170UCSCBeta/Gamma crystallin

Gene Aliases

HGNC Name

crystallin gamma A

HGNC Previous Symbol

CRYG1

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 48 variants

9 papers

chr2:208163217 C>T

NM_014617.4

p.R80H

c.239G>A

Crystall

Exome: 0.4% (AC=5292, hom=23)Genome: 0.2% (AC=378, hom=2)126 overlapping SVs

5 papers

chr2:208163260 A>G

NM_014617.4

p.Y66H

c.196T>C

Crystall

Exome: 0.0% (AC=3, hom=0)Genome: n/a125 overlapping SVs

4 papers

chr2:208163314 G>A

NM_014617.4

p.R48C

c.142C>T

Crystall

Exome: 0.0% (AC=78, hom=1)Genome: 0.0% (AC=5, hom=0)125 overlapping SVs

4 papers

chr2:208161034 G>A

NM_014617.4

p.R99*

c.295C>T

Crystall

Exome: 0.1% (AC=1299, hom=20)Genome: 0.2% (AC=368, hom=3)126 overlapping SVs

3 papers

chr2:208163403 T>A

NM_014617.4

p.N18I

c.53A>T

Crystall

Exome: 0.5% (AC=6621, hom=28)Genome: 0.4% (AC=559, hom=0)125 overlapping SVs

2 papers

chr2:208163427 C>G

NM_014617.4

p.R10P

c.29G>C

Crystall

exact variant not in gnomAD125 overlapping SVs

1 paper

chr2:208163556 T>C

NM_014617.4

p.M1V

c.1A>G

exact variant not in gnomAD125 overlapping SVs

1 paper

chr2:208163555 A>T

NM_014617.4

p.M1K

c.2T>A

exact variant not in gnomAD125 overlapping SVs

1 paper

chr2:208163554 C>A

NM_014617.4

p.M1I

c.3G>T

Exome: 0.0% (AC=8, hom=0)Genome: n/a125 overlapping SVs

1 paper

chr2:208163554 C>T

NM_014617.4

p.M1I

c.3G>A

Exome: 0.0% (AC=1, hom=0)Genome: 0.0% (AC=1, hom=0)125 overlapping SVs

1 paper

chr2:208163416 C>A

NM_014617.4

p.G14C

c.40G>T

Crystall

exact variant not in gnomAD125 overlapping SVs

1 paper

chr2:208163412 C>CG

NM_014617.4

p.R15insFs

c.43_44insC

Crystall

exact variant not in gnomAD125 overlapping SVs

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