Varaico: Literature-Extracted Genetic Variants

Gene:CRYBG2
Variant:p.Q511R

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.Q511R
c.1532A>G
Surrounding Variants
5 papers
NM_001039775.4
p.S508S
c.1524T>C
2 papers
NM_001039775.4
p.S518S
c.1554C>T
4 papers
NM_001039775.4
p.S519G
c.1555A>G
1 paper
NM_001039775.4
p.S518_S519delins
c.1554_1555delinsTG
1 paper
NM_001039775.4
p.G502C
c.1504G>T
1 paper
NM_001039775.4
p.A522delFs
c.1564delC
1 paper
NM_001039775.4
p.A523_L524insG
c.1567_1571ins3
4 papers
NM_001039775.4
p.L524S
c.1571T>C
3 papers
NM_001039775.4
p.L524fs
c.1570_1571fs
1 paper
NM_001039775.4
p.V498M
c.1492G>A
2 papers
NM_001039775.4
p.V497V
c.1491C>T
2 papers
NM_001039775.4
p.F525S
c.1574T>C
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