Varaico: Literature-Extracted Genetic Variants

Gene:CRYBG1
Variant:p.E56Q

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.E56Q
c.166G>C
NM_001371242.2
p.E464Q
c.1390G>C
Surrounding Variants
1 paper
NM_001371242.2
p.A456T
c.1366G>A
1 paper
NM_001371242.2
p.G477S
c.1429G>A
1 paper
NM_001371242.2
p.S480C
c.1439C>G
1 paper
NM_001371242.2
p.S486F
c.1457C>T
1 paper
NM_001371242.2
p.E401insFs
c.1203dupA
1 paper
NM_001371242.2
p.P393_E401insFs
c.1179_1203dup25
1 paper
NM_001371242.2
p.K374N
c.1122G>C
1 paper
NM_001371242.2
p.T555I
c.1664C>T
1 paper
NM_001371242.2
p.A364V
c.1091C>T
1 paper
NM_001371242.2
p.A355_S356delFs
c.1063_1066del4
1 paper
NM_001371242.2
p.E600K
c.1798G>A
1 paper
NM_001371242.2
p.G315A
c.944G>C
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