Varaico: Literature-Extracted Genetic Variants

Gene:GLB1L2
Variant:p.K207delFs

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.K207delFs
c.621delA
Surrounding Variants
6 papers
NM_001370461.1
p.Y205*
c.615T>A
5 papers
NM_001370461.1
p.Y205*
c.615T>G
5 papers
NM_001370461.1
p.G203D
c.608G>A
1 paper
NM_001370461.1
p.A210T
c.628G>A
1 paper
NM_001370461.1
p.K217_A218Splc
c.651+4A>G
1 paper
NM_001370461.1
p.D221Y
c.661G>T
1 paper
NM_001370461.1
p.R222H
c.665G>A
1 paper
NM_001370461.1
p.D235E
c.705T>A
1 paper
NM_001370461.1
p.D235E
c.705T>G
1 paper
NM_001370461.1
p.G244V
c.731G>T
1 paper
NM_001370461.1
p.T254A
c.760A>G
1 paper
NM_001370461.1
p.T261A
c.781A>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."