Varaico: Literature-Extracted Genetic Variants

Gene:GLB1L3
Variant:p.E555delFs

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
1 paper
NM_001080407.3
p.E555delFs
c.1663_1664delGA
Surrounding Variants
1 paper
NM_001080407.3
p.E555fs
c.1663_1664fs
1 paper
NM_001080407.3
p.R556T
c.1667G>C
1 paper
NM_001080407.3
p.S537S
c.1611T>G
1 paper
NM_001080407.3
p.G530insFs
c.1588_1589ins22
1 paper
NM_001080407.3
p.G530fs
c.1588_1589fs
2 papers
NM_001080407.3
p.R558H
c.1673G>A
1 paper
NM_001080407.3
p.S568N
c.1703G>A
1 paper
NM_001080407.3
p.A573T
c.1717G>A
1 paper
NM_001080407.3
p.Y575Y
c.1725C>T
1 paper
NM_001080407.3
p.G527Splc
c.1579+41G>A
1 paper
NM_001080407.3
p.Q522*
c.1564C>T
1 paper
NM_001080407.3
p.R514*
c.1540C>T
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."