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.T54I

c.161C>T

Surrounding Variants

1 paper

NM_000228.3

p.E53E

c.159G>A

3 papers

NM_000228.3

p.C56insFs

c.167_168insT

1 paper

NM_000228.3

p.P52L

c.155C>T

1 paper

NM_000228.3

p.E61G

c.182A>G

1 paper

NM_000228.3

p.E61_W62Splc

c.183+1G>T

3 papers

NM_000228.3

p.T46T

c.138C>T

3 papers

NM_000228.3

p.S45A

c.133T>G

1 paper

NM_000228.3

p.R42delFs

c.124_125delCG

1 paper

NM_000228.3

p.R42P

c.125G>C

51 papers

NM_000228.3

p.R42*

c.124C>T

1 paper

NM_000228.3

p.V35I

c.103G>A

2 papers

NM_000228.3

p.L34F

c.100C>T