Varaico: Literature-Extracted Genetic Variants

Gene:GLB1L3
Variant:p.R293K

GLB1L3

55 papers

Pfam Domains

Glyco_hydro_35aa 79–392UCSCGlycosyl hydrolases family 35
BetaGal_ABD_1aa 436–548UCSCBeta-galactosidase, first all-beta domain
BetaGal_gal-bdaa 572–631UCSCBeta-galactosidase, galactose-binding domain

Gene Aliases

HGNC Name

galactosidase beta 1 like 3

HGNC Alias Symbol

FLJ90231

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001080407.3
p.R293K
c.878G>A
Surrounding Variants
1 paper
NM_001080407.3
p.E321Splc
c.961+8T>A
1 paper
NM_001080407.3
p.F341L
c.1021T>C
1 paper
NM_001080407.3
p.F341L
c.1023C>A
1 paper
NM_001080407.3
p.F341L
c.1023C>G
1 paper
NM_001080407.3
p.T345S
c.1033A>T
1 paper
NM_001080407.3
p.T345S
c.1034C>G
1 paper
NM_001080407.3
p.G352R
c.1054G>A
1 paper
NM_001080407.3
p.G352R
c.1054G>C
1 paper
NM_001080407.3
p.G352W
c.1054G>T
1 paper
NM_001080407.3
p.F356F
c.1068C>T
1 paper
NM_001080407.3
p.G357R
c.1069G>A
1 paper
NM_001080407.3
p.G357R
c.1069G>C
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