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.D152N

c.454G>A

Surrounding Variants

1 paper

NM_000228.3

p.A151V

c.452C>T

4 papers

NM_000228.3

p.T154_S155insFs

c.462_463insT

3 papers

NM_000228.3

p.S155insFs

c.464_465insT

1 paper

NM_000228.3

p.T156fs

c.466_467fs

1 paper

NM_000228.3

p.F157fs

c.469_470fs

1 paper

NM_000228.3

p.V145M

c.433G>A

1 paper

NM_000228.3

p.R144R

c.432A>T

9 papers

NM_000228.3

p.R144*

c.430C>T

3 papers

NM_000228.3

p.V160G

c.479T>G

1 paper

NM_000228.3

p.W143C

c.429G>T

1 paper

NM_000228.3

p.W143C

c.429G>C

2 papers

NM_000228.3

p.W143*

c.429G>A