Varaico: Literature-Extracted Genetic Variants

Gene:CRYBG1
Variant:p.A272T

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.A272T
c.814G>A
Surrounding Variants
1 paper
NM_001371242.2
p.A252T
c.754G>A
1 paper
NM_001371242.2
p.G307R
c.919G>A
1 paper
NM_001371242.2
p.G315A
c.944G>C
1 paper
NM_001371242.2
p.A221del1
c.661_663delGCT
1 paper
NM_001371242.2
p.A205T
c.613G>A
1 paper
NM_001371242.2
p.E196K
c.586G>A
1 paper
NM_001371242.2
p.A355_S356delFs
c.1063_1066del4
1 paper
NM_001371242.2
p.A364V
c.1091C>T
1 paper
NM_001371242.2
p.K374N
c.1122G>C
1 paper
NM_001371242.2
p.P158L
c.473C>T
1 paper
NM_001371242.2
p.S157F
c.470C>T
1 paper
NM_001371242.2
p.V154L
c.460G>T
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