Varaico: Literature-Extracted Genetic Variants

Gene:GLB1L2
Variant:p.I483N

GLB1L2

64 papers

Pfam Domains

Glyco_hydro_35aa 53–368UCSCGlycosyl hydrolases family 35
BetaGal_ABD_1aa 412–524UCSCBeta-galactosidase, first all-beta domain
BetaGal_gal-bdaa 548–607UCSCBeta-galactosidase, galactose-binding domain

Gene Aliases

HGNC Name

galactosidase beta 1 like 2

HGNC Previous Name

galactosidase, beta 1-like 2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001370461.1
p.I483N
c.1448T>A
Surrounding Variants
1 paper
NM_001370461.1
p.R490*
c.1468C>T
1 paper
NM_001370461.1
p.Q500R
c.1499A>G
1 paper
NM_001370461.1
p.L474delFs
c.1420_1421delCT
3 papers
NM_001370461.1
p.I460T
c.1379T>C
1 paper
NM_001370461.1
p.T457I
c.1370C>T
1 paper
NM_001370461.1
p.G445S
c.1333G>A
1 paper
NM_001370461.1
p.S427F
c.1280C>T
1 paper
NM_001370461.1
p.L403V
c.1207C>G
1 paper
NM_001370461.1
p.L400L
c.1200C>G
1 paper
NM_001370461.1
p.L400F
c.1198C>T
1 paper
NM_001370461.1
p.P384P
c.1152G>A
1 paper
NM_001370461.1
p.P384S
c.1150C>T
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