Varaico: Literature-Extracted Genetic Variants

Gene:CRYBG2
Variant:p.Q596*

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.Q596*
c.1786C>T
Surrounding Variants
1 paper
NM_001039775.4
p.Q596R
c.1787A>G
1 paper
NM_001039775.4
p.G602A
c.1805G>C
1 paper
NM_001039775.4
p.P603P
c.1809C>G
1 paper
NM_001039775.4
p.C604G
c.1810T>G
1 paper
NM_001039775.4
p.A607_S610del4
c.1819_1829del12
1 paper
NM_001039775.4
p.Q613R
c.1838A>G
1 paper
NM_001039775.4
p.T577P
c.1729A>C
1 paper
NM_001039775.4
p.G621S
c.1861G>A
1 paper
NM_001039775.4
p.P560S
c.1678C>T
1 paper
NM_001039775.4
p.S559S
c.1677C>T
1 paper
NM_001039775.4
p.S559S
c.1677C>G
1 paper
NM_001039775.4
p.S559C
c.1676C>G
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