Varaico: Literature-Extracted Genetic Variants

Gene:CRYBG1
Variant:p.Y1475*

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
3 papers
NM_001371242.2
p.Y1475*
c.4425T>A
Surrounding Variants
3 papers
NM_001371242.2
p.Y1475*
c.4425T>G
1 paper
NM_001371242.2
p.K1378K
c.4134A>G
1 paper
NM_001371242.2
p.K1361R
c.4082A>G
1 paper
NM_001371242.2
p.S1326R
c.3978T>A
1 paper
NM_001371242.2
p.S1326R
c.3978T>G
1 paper
NM_001371242.2
p.S1326R
c.3976A>C
2 papers
NM_001371242.2
p.L1303L
c.3909T>A
1 paper
NM_001371242.2
p.C1294S
c.3881G>C
1 paper
NM_001371242.2
p.T1261A
c.3781A>G
1 paper
NM_001371242.2
p.S1240N
c.3719G>A
1 paper
NM_001371242.2
p.Q1196P
c.3587A>C
1 paper
NM_001371242.2
p.P1141S
c.3421C>T
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