Varaico: Literature-Extracted Genetic Variants

Gene:CRYBG2
Variant:p.P132L

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
1 paper
NM_001039775.4
p.P132L
c.395C>T
Surrounding Variants
1 paper
NM_001039775.4
p.G94E
c.281G>A
1 paper
NM_001039775.4
p.H93R
c.278A>G
1 paper
NM_001039775.4
p.T175insFs
c.523_524insG
1 paper
NM_001039775.4
p.T175_R179del0
c.524_535del12
1 paper
NM_001039775.4
p.R179delFs
c.536_537delCC
1 paper
NM_001039775.4
p.T180_T181delFs
c.538_542del5
6 papers
NM_001039775.4
p.T177_V183del0
c.531_548del18
2 papers
NM_001039775.4
p.T70I
c.209C>T
1 paper
NM_001039775.4
p.S203_G204delFs
c.607_610del4
1 paper
NM_001039775.4
p.F57L
c.171C>G
1 paper
NM_001039775.4
p.F57L
c.171C>A
1 paper
NM_001039775.4
p.F57L
c.169T>C
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