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

2 papers

NM_000228.3

p.R245H

c.734G>A

Surrounding Variants

11 papers

NM_000228.3

p.Q243*

c.727C>T

1 paper

NM_000228.3

p.Y232_V241delFs

c.694_722del29

1 paper

NM_000228.3

p.S249R

c.745A>C

1 paper

NM_000228.3

p.S249R

c.747C>G

1 paper

NM_000228.3

p.S249R

c.747C>A

1 paper

NM_000228.3

p.H253R

c.758A>G

1 paper

NM_000228.3

p.S236T

c.707G>C

3 papers

NM_000228.3

p.G254D

c.761G>A

1 paper

NM_000228.3

p.S236N

c.707G>A

1 paper

NM_000228.3

p.R258delFs

c.773delC

2 papers

NM_000228.3

p.A260T

c.778G>A

2 papers

NM_000228.3

p.R230T

c.689G>C