Varaico: Literature-Extracted Genetic Variants

Gene:CRYBG2
Variant:p.R10Q

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.R10Q
c.29G>A
Surrounding Variants
1 paper
NM_001039775.4
p.R10W
c.28C>T
1 paper
NM_001039775.4
p.A11S
c.31G>T
1 paper
NM_001039775.4
p.R10delFs
c.30delC
7 papers
NM_001039775.4
p.R14Q
c.41G>A
6 papers
NM_001039775.4
p.R25W
c.73C>T
1 paper
NM_001039775.4
p.M54I
c.162G>T
1 paper
NM_001039775.4
p.M54I
c.162G>C
1 paper
NM_001039775.4
p.M54I
c.162G>A
1 paper
NM_001039775.4
p.F57L
c.169T>C
1 paper
NM_001039775.4
p.F57L
c.171C>G
1 paper
NM_001039775.4
p.F57L
c.171C>A
2 papers
NM_001039775.4
p.T70I
c.209C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."