Varaico: Literature-Extracted Genetic Variants

Gene:CRYBG2
Variant:p.S1294N

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
7 papers
NM_001039775.4
p.S1294N
c.3881G>A
Surrounding Variants
1 paper
NM_001039775.4
p.H1275H
c.3825C>T
1 paper
NM_001039775.4
p.G1315R
c.3943G>C
1 paper
NM_001039775.4
p.G1315R
c.3943G>A
1 paper
NM_001039775.4
p.V1324M
c.3970G>A
1 paper
NM_001039775.4
p.Y1325H
c.3973T>C
1 paper
NM_001039775.4
p.R1326P
c.3977G>C
1 paper
NM_001039775.4
p.S1340L
c.4019C>T
1 paper
NM_001039775.4
p.R1256W
c.3766C>T
1 paper
NM_001039775.4
p.E1220K
c.3658G>A
1 paper
NM_001039775.4
p.R1187Q
c.3560G>A
1 paper
NM_001039775.4
p.R1187R
c.3559C>A
1 paper
NM_001039775.4
p.R1169K
c.3506G>A
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