Varaico: Literature-Extracted Genetic Variants

GBA1

1,523 papers

RefSeq Summary

This gene encodes a lysosomal membrane protein that cleaves the beta-glucosidic linkage of glycosylceramide, an intermediate in glycolipid metabolism. Mutations in this gene cause Gaucher disease, a l...

Pfam Domains

Glyco_hydro_30aa 117–466UCSCGlycosyl hydrolase family 30 TIM-barrel domain

Glyco_hydro_30Caa 469–531UCSCGlycosyl hydrolase family 30 beta sandwich domain

Gene Aliases

HGNC Name

glucosylceramidase beta 1

HGNC Previous Symbol

GLUC

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000157.4

p.T408K

c.1223C>A

Surrounding Variants

141 papers

NM_000157.4

p.T408M

c.1223C>T

1 paper

NM_000157.4

p.T408T

c.1224G>T

1 paper

NM_000157.4

p.T408T

c.1224G>C

10 papers

NM_000157.4

p.T408T

c.1224G>A

1 paper

NM_000157.4

p.T408S

c.1222A>T

1 paper

NM_001171811.2

p.T321_N322Splc

c.963+1G>T

NM_001171812.2

p.T359_N360Splc

c.1077+1G>T

1 paper

NM_000157.4

p.I407I

c.1221C>T

2 papers

NM_000157.4

p.I407S

c.1220T>G

5 papers

NM_000157.4

p.I407T

c.1220T>C

3 papers

NM_000157.4

p.I407N

c.1220T>A

3 papers

NM_000157.4

p.I406N

c.1217T>A

1 paper

NM_000157.4

p.I406F

c.1216A>T