Varaico: Literature-Extracted Genetic Variants

Gene:CRYBG2
Variant:p.F542F

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
3 papers
NM_001039775.4
p.F542F
c.1626T>C
Surrounding Variants
1 paper
NM_001039775.4
p.F542S
c.1625T>C
3 papers
NM_001039775.4
p.P538_F542delFs
c.1614_1626del13
1 paper
NM_001039775.4
p.P538_F542del5
c.1612_1625del15
2 papers
NM_001039775.4
p.S541S
c.1623A>G
1 paper
NM_001039775.4
p.W545R
c.1633T>C
1 paper
NM_001039775.4
p.W545R
c.1633T>A
1 paper
NM_001039775.4
p.D539A
c.1616A>C
1 paper
NM_001039775.4
p.D539fs
c.1615_1616fs
2 papers
NM_001039775.4
p.P538fs
c.1612_1613fs
1 paper
NM_001039775.4
p.G536_A537del2
c.1606_1610del6
1 paper
NM_001039775.4
p.G536_A537delFs
c.1607_1610del4
1 paper
NM_001039775.4
p.G536fs
c.1606_1607fs
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