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.S608insFs

c.1823_1824insG

Surrounding Variants

1 paper

NM_000228.3

p.S608fs

c.1822_1823fs

11 papers

NM_000228.3

p.W610*

c.1829G>A

11 papers

NM_000228.3

p.W610*

c.1830G>A

4 papers

NM_000228.3

p.G612E

c.1835G>A

1 paper

NM_000228.3

p.P613S

c.1837C>T

1 paper

NM_000228.3

p.R603C

c.1807C>T

1 paper

NM_000228.3

p.L602F

c.1804C>T

1 paper

NM_000228.3

p.R598L

c.1793G>T

1 paper

NM_000228.3

p.A596S

c.1786G>T

1 paper

NM_000228.3

p.A596T

c.1786G>A

1 paper

NM_000228.3

p.S622_R623insA

c.1864_1868ins3

1 paper

NM_000228.3

p.E594G

c.1781A>G