Varaico: Literature-Extracted Genetic Variants

GLB1

1,485 papers

RefSeq Summary

This gene encodes a member of the glycosyl hydrolase 35 family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteoly...

Pfam Domains

Glyco_hydro_35aa 40–83UCSCGlycosyl hydrolases family 35

Glyco_hydro_35aa 40–357UCSCGlycosyl hydrolases family 35

BetaGal_ABD_1aa 403–515UCSCBeta-galactosidase, first all-beta domain

Gene Aliases

HGNC Name

galactosidase beta 1

HGNC Previous Symbol

ELNR1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_000404.4

p.I489delFs

c.1465_1466delAT

Surrounding Variants

1 paper

NM_000404.4

p.G486_I489insFs

c.1456_1466dup11

1 paper

NM_000404.4

p.I489fs

c.1465_1466fs

1 paper

NM_000404.4

p.I489fs

c.1465_1466fs

1 paper

NM_000404.4

p.N490S

c.1469A>G

7 papers

NM_000404.4

p.D491Y

c.1471G>T

5 papers

NM_000404.4

p.D491N

c.1471G>A

1 paper

NM_000404.4

p.N490delFs

c.1470delG

4 papers

NM_000404.4

p.N490del1

c.1468_1469delGTT

1 paper

NM_000404.4

p.D491delFs

c.1471delC

2 papers

NM_000404.4

p.A487A

c.1461A>G

2 papers

NM_000404.4

p.A487T

c.1459G>A

1 paper

NM_000404.4

p.Y485_G486delFs

c.1454_1457del4