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

1 paper

NM_000228.3

p.D589N

c.1765G>A

Surrounding Variants

4 papers

NM_000228.3

p.Y588Y

c.1764T>C

4 papers

NM_000228.3

p.T587delFs

c.1760delG

1 paper

NM_000228.3

p.Q586H

c.1758G>T

1 paper

NM_000228.3

p.D591A

c.1772A>C

5 papers

NM_000228.3

p.Q586*

c.1756C>T

1 paper

NM_000228.3

p.E594G

c.1781A>G

1 paper

NM_000228.3

p.P583H

c.1748C>A

1 paper

NM_000228.3

p.A596S

c.1786G>T

1 paper

NM_000228.3

p.A596T

c.1786G>A

1 paper

NM_000228.3

p.R598L

c.1793G>T

1 paper

NM_000228.3

p.P576P

c.1728G>A

1 paper

NM_000228.3

p.L602F

c.1804C>T