Varaico: Literature-Extracted Genetic Variants

Gene:GLB1L3
Variant:p.E458K

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.E458K
c.1372G>A
Surrounding Variants
1 paper
NM_001080407.3
p.Y452N
c.1354T>A
2 papers
NM_001080407.3
p.R468C
c.1402C>T
1 paper
NM_001080407.3
p.A469P
c.1405G>C
1 paper
NM_001080407.3
p.H470Q
c.1410C>A
1 paper
NM_001080407.3
p.H470Q
c.1410C>G
1 paper
NM_001080407.3
p.D473G
c.1418A>G
2 papers
NM_001080407.3
p.V474M
c.1420G>A
2 papers
NM_001080407.3
p.S433W
c.1298C>G
1 paper
NM_001080407.3
p.P497S
c.1489C>T
2 papers
NM_001080407.3
p.D501N
c.1501G>A
1 paper
NM_001080407.3
p.C502W
c.1506C>G
1 paper
NM_001080407.3
p.R514*
c.1540C>T
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