Varaico: Literature-Extracted Genetic Variants

Gene:CRYBG2

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
1–12 of 193 variants
14 papers
NM_001039775.4
p.S487P
c.1459T>C
11 papers
NM_001039775.4
p.R477Q
c.1430G>A
7 papers
NM_001039775.4
p.R14Q
c.41G>A
7 papers
NM_001039775.4
p.P689T
c.2065C>A
7 papers
NM_001039775.4
p.S1294N
c.3881G>A
6 papers
NM_001039775.4
p.R25W
c.73C>T
6 papers
NM_001039775.4
p.T177_V183del0
c.531_548del18
6 papers
NM_001039775.4
p.V634A
c.1901T>C
6 papers
NM_001039775.4
p.R847H
c.2540G>A
5 papers
NM_001039775.4
p.S508S
c.1524T>C
4 papers
NM_001039775.4
p.K393fs
c.1177_1178fs
4 papers
NM_001039775.4
p.S519G
c.1555A>G
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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."