Varaico: Literature-Extracted Genetic Variants

Gene:CRYBG2
Variant:p.G729_V739del11

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.G729_V739del11
c.2185_2216del33
Surrounding Variants
1 paper
NM_001039775.4
p.P742L
c.2225C>T
1 paper
NM_001039775.4
p.P742P
c.2226C>T
1 paper
NM_001039775.4
p.T734M
c.2201C>T
1 paper
NM_001039775.4
p.S718R
c.2154C>G
1 paper
NM_001039775.4
p.S718R
c.2154C>A
1 paper
NM_001039775.4
p.A762T
c.2284G>A
1 paper
NM_001039775.4
p.S718R
c.2152A>C
1 paper
NM_001039775.4
p.P717delFs
c.2150delG
1 paper
NM_001039775.4
p.S709P
c.2125T>C
3 papers
NM_001039775.4
p.R790C
c.2368C>T
7 papers
NM_001039775.4
p.P689T
c.2065C>A
2 papers
NM_001039775.4
p.T799M
c.2396C>T
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