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

10 papers

NM_000228.3

p.Q166*

c.496C>T

Surrounding Variants

1 paper

NM_000228.3

p.Q166fs

c.496_497fs

2 papers

NM_000228.3

p.Q166insFs

c.497dupA

1 paper

NM_000228.3

p.S167fs

c.499_500fs

1 paper

NM_000228.3

p.R164R

c.492G>C

1 paper

NM_000228.3

p.W168fs

c.502_503fs

1 paper

NM_000228.3

p.R164W

c.490C>T

1 paper

NM_000228.3

p.W168C

c.504G>C

1 paper

NM_000228.3

p.G163fs

c.487_488fs

1 paper

NM_000228.3

p.D170N

c.508G>A

2 papers

NM_000228.3

p.Q162*

c.484C>T

1 paper

NM_000228.3

p.Q162K

c.484C>A

1 paper

NM_000228.3

p.R161C

c.481C>T