Varaico: Literature-Extracted Genetic Variants

Gene:CRYBG2
Variant:p.K393fs

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
4 papers
NM_001039775.4
p.K393fs
c.1177_1178fs
Surrounding Variants
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.T403I
c.1208C>T
1 paper
NM_001039775.4
p.G380W
c.1138G>T
1 paper
NM_001039775.4
p.V374L
c.1120G>T
1 paper
NM_001039775.4
p.V374L
c.1120G>C
1 paper
NM_001039775.4
p.V413V
c.1239G>A
2 papers
NM_001039775.4
p.G417E
c.1250G>A
1 paper
NM_001039775.4
p.H368R
c.1103A>G
1 paper
NM_001039775.4
p.R426K
c.1277G>A
3 papers
NM_001039775.4
p.T359A
c.1075A>G
1 paper
NM_001039775.4
p.L357L
c.1071C>A
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."