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

18 papers

NM_000228.3

p.E210K

c.628G>A

Surrounding Variants

1 paper

NM_000228.3

p.E210Splc

c.628+2T>A

1 paper

NM_000228.3

p.E210Splc

c.628+3C>T

1 paper

NM_000228.3

p.I208insFs

c.622_623insA

3 papers

NM_000228.3

p.I208delFs

c.622delT

2 papers

NM_000228.3

p.I208fs

c.622_623fs

5 papers

NM_000228.3

p.K207Q

c.619A>C

1 paper

NM_000228.3

p.S205N

c.614G>A

1 paper

NM_000228.3

p.S205fs

c.613_614fs

1 paper

NM_000228.3

p.S205G

c.613A>G

2 papers

NM_000228.3

p.A202delFs

c.604delC

1 paper

NM_000228.3

p.I200insFs

c.600dupT

5 papers

NM_000228.3

p.G199A

c.596G>C