Varaico: Literature-Extracted Genetic Variants

Gene:CRYBG2
Variant:p.E831D

CRYBG2

155 papers

Pfam Domains

Crystallaa 987–1066UCSCBeta/Gamma crystallin
Crystallaa 1074–1155UCSCBeta/Gamma crystallin
Crystallaa 1169–1255UCSCBeta/Gamma crystallin
Crystallaa 1263–1344UCSCBeta/Gamma crystallin
Crystallaa 1357–1436UCSCBeta/Gamma crystallin
Crystallaa 1444–1524UCSCBeta/Gamma crystallin

Gene Aliases

HGNC Name

crystallin beta-gamma domain containing 2

HGNC Previous Symbol

AIM1L

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001039775.4
p.E831D
c.2493G>C
Surrounding Variants
2 papers
NM_001039775.4
p.E831D
c.2493G>T
1 paper
NM_001039775.4
p.E833ins1
c.2498_2499insGGA
1 paper
NM_001039775.4
p.E829D
c.2487G>T
1 paper
NM_001039775.4
p.E829D
c.2487G>C
1 paper
NM_001039775.4
p.E832_E833ins0
c.2496_2498dupGGA
1 paper
NM_001039775.4
p.E833del1
c.2497_2498delTTC
1 paper
NM_001039775.4
p.L823V
c.2467C>G
1 paper
NM_001039775.4
p.D842N
c.2524G>A
6 papers
NM_001039775.4
p.R847H
c.2540G>A
1 paper
NM_001039775.4
p.T799T
c.2397G>A
2 papers
NM_001039775.4
p.T799M
c.2396C>T
1 paper
NM_001039775.4
p.V868V
c.2604C>A
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