Varaico: Literature-Extracted Genetic Variants

Gene:CRYBG1
Variant:p.S695Y

CRYBG1

93 papers

Pfam Domains

Crystallaa 1431–1505UCSCBeta/Gamma crystallin
Crystallaa 1532–1613UCSCBeta/Gamma crystallin
Crystallaa 1627–1720UCSCBeta/Gamma crystallin
Crystallaa 1728–1811UCSCBeta/Gamma crystallin
Crystallaa 1824–1903UCSCBeta/Gamma crystallin
Crystallaa 1911–1991UCSCBeta/Gamma crystallin

Gene Aliases

HGNC Name

crystallin beta-gamma domain containing 1

HGNC Previous Symbols

ST4; AIM1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001624.4
p.S695Y
c.2084C>A
Surrounding Variants
1 paper
NM_001371242.2
p.P1141S
c.3421C>T
1 paper
NM_001371242.2
p.S1063_H1066del0
c.3189_3197del9
1 paper
NM_001371242.2
p.S1063_H1066del4
c.3187_3197del12
1 paper
NM_001371242.2
p.K1036insFs
c.3106_3107ins5
1 paper
NM_001371242.2
p.Q1196P
c.3587A>C
1 paper
NM_001371242.2
p.P1005fs
c.3013_3014fs
1 paper
NM_001371242.2
p.P1005delFs
c.3014delC
1 paper
NM_001371242.2
p.S991N
c.2972G>A
1 paper
NM_001371242.2
p.S1240N
c.3719G>A
1 paper
NM_001371242.2
p.T1261A
c.3781A>G
1 paper
NM_001371242.2
p.C1294S
c.3881G>C
2 papers
NM_001371242.2
p.L1303L
c.3909T>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."