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

1–12 of 599 variants

137 papers

NM_000228.3

p.R635*

c.1903C>T

51 papers

NM_000228.3

p.R42*

c.124C>T

39 papers

NM_000228.3

p.E210K

c.628G>A

18 papers

NM_000228.3

p.A10insFs

c.29_30insC

18 papers

NM_000228.3

p.E210K

c.628G>A

14 papers

NM_000228.3

p.R660*

c.1978C>T

13 papers

NM_000228.3

p.R569*

c.1705C>T

11 papers

NM_000228.3

p.Q243*

c.727C>T

11 papers

NM_000228.3

p.W610*

c.1829G>A

11 papers

NM_000228.3

p.W610*

c.1830G>A

11 papers

NM_000228.3

p.W1040*

c.3119G>A

10 papers

NM_000228.3

p.Q166*

c.496C>T