Varaico: Literature-Extracted Genetic Variants

Gene:CRYBG2
Variant:p.S232R

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.S232R
c.696C>A
Surrounding Variants
1 paper
NM_001039775.4
p.S232R
c.696C>G
1 paper
NM_001039775.4
p.S232R
c.694A>C
1 paper
NM_001039775.4
p.A244fs
c.730_731fs
1 paper
NM_001039775.4
p.H246H
c.738C>T
1 paper
NM_001039775.4
p.P243_S247delFs
c.729_739del11
2 papers
NM_001039775.4
p.R215C
c.643C>T
1 paper
NM_001039775.4
p.P254T
c.760C>A
1 paper
NM_001039775.4
p.R209W
c.625C>T
1 paper
NM_001039775.4
p.S203_G204delFs
c.607_610del4
6 papers
NM_001039775.4
p.T177_V183del0
c.531_548del18
1 paper
NM_001039775.4
p.T180_T181delFs
c.538_542del5
1 paper
NM_001039775.4
p.R179delFs
c.536_537delCC
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