Varaico: Literature-Extracted Genetic Variants

Gene:CRYBG2
Variant:p.R1187R

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.R1187R
c.3559C>A
Surrounding Variants
1 paper
NM_001039775.4
p.R1187Q
c.3560G>A
1 paper
NM_001039775.4
p.E1220K
c.3658G>A
1 paper
NM_001039775.4
p.R1256W
c.3766C>T
1 paper
NM_001039775.4
p.R1169K
c.3506G>A
1 paper
NM_001039775.4
p.G1158D
c.3473G>A
1 paper
NM_001039775.4
p.H1275H
c.3825C>T
7 papers
NM_001039775.4
p.S1294N
c.3881G>A
2 papers
NM_001039775.4
p.Y1136D
c.3406T>G
1 paper
NM_001039775.4
p.P1133T
c.3397C>A
1 paper
NM_001039775.4
p.Y1129H
c.3385T>C
1 paper
NM_001039775.4
p.L1115L
c.3345G>A
1 paper
NM_001039775.4
p.G1315R
c.3943G>C
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