Varaico: Literature-Extracted Genetic Variants

Gene:GLB1L2

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
1–12 of 68 variants
6 papers
NM_001370461.1
p.Y205*
c.615T>A
5 papers
NM_001370461.1
p.G203D
c.608G>A
5 papers
NM_001370461.1
p.Y205*
c.615T>G
3 papers
NM_001370461.1
p.I460T
c.1379T>C
2 papers
NM_001370461.1
p.R41C
c.121C>T
2 papers
NM_001370461.1
p.W62*
c.185G>A
2 papers
NM_001370461.1
p.W62*
c.186G>A
2 papers
NM_001370461.1
p.S285L
c.854C>T
2 papers
NM_001370461.1
p.T560T
c.1680C>G
1 paper
NM_001370461.1
p.T2A
c.4A>G
1 paper
NM_001370461.1
p.R12C
c.34C>T
1 paper
NM_001370461.1
p.V21A
c.62T>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."