Varaico: Literature-Extracted Genetic Variants

LAMB3

498 papers

RefSeq Summary

The product encoded by this gene is a laminin that belongs to a family of basement membrane proteins. This protein is a beta subunit laminin, which together with an alpha and a gamma subunit, forms la...

Pfam Domains

Laminin_Naa 26–248UCSCLaminin N-terminal (Domain VI)

EGF_lamininaa 250–313UCSCLaminin EGF domain

EGF_LMN_ATRNaa 316–371UCSCLaminin/attractin EGF domain

EGF_lamininaa 379–428UCSCLaminin EGF domain

EGF_lamininaa 431–478UCSCLaminin EGF domain

EGF_lamininaa 481–531UCSCLaminin EGF domain

Gene Aliases

HGNC Name

laminin subunit beta 3

HGNC Previous Symbol

LAMNB1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

39 papers

NM_000228.3

p.E210K

c.628G>A

Surrounding Variants

1 paper

NM_000228.3

p.E210fs

c.628_629fs

1 paper

NM_000228.3

p.E210G

c.629A>G

1 paper

NM_000228.3

p.V211L

c.631G>T

1 paper

NM_000228.3

p.G212A

c.635G>C

2 papers

NM_000228.3

p.E213K

c.637G>A

1 paper

NM_000228.3

p.E210Splc

c.629-12T>G

9 papers

NM_000228.3

p.E210Splc

c.629-12T>A

1 paper

NM_000228.3

p.N216delFs

c.647delT

1 paper

NM_000228.3

p.N220delFs

c.658delT

1 paper

NM_000228.3

p.P226insFs

c.676dupC

2 papers

NM_000228.3

p.R230T

c.689G>C

1 paper

NM_000228.3

p.S236T

c.707G>C