Varaico: Literature-Extracted Genetic Variants

Gene:CRYBG2
Variant:p.G434V

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.G434V
c.1301G>T
Surrounding Variants
1 paper
NM_001039775.4
p.R426K
c.1277G>A
2 papers
NM_001039775.4
p.G417E
c.1250G>A
1 paper
NM_001039775.4
p.V413V
c.1239G>A
1 paper
NM_001039775.4
p.T403I
c.1208C>T
1 paper
NM_001039775.4
p.P467P
c.1401C>T
4 papers
NM_001039775.4
p.K393fs
c.1177_1178fs
3 papers
NM_001039775.4
p.K393delFs
c.1178delT
1 paper
NM_001039775.4
p.K393fs
c.1177_1178fs
1 paper
NM_001039775.4
p.T476S
c.1426A>T
11 papers
NM_001039775.4
p.R477Q
c.1430G>A
14 papers
NM_001039775.4
p.S487P
c.1459T>C
1 paper
NM_001039775.4
p.G380W
c.1138G>T
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