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.F538L

c.1612T>C

Surrounding Variants

2 papers

NM_000228.3

p.R539Q

c.1616G>A

1 paper

NM_000228.3

p.T541K

c.1622C>A

1 paper

NM_000228.3

p.A533Splc

c.1598-1G>T

1 paper

NM_000228.3

p.A533T

c.1597G>A

1 paper

NM_000228.3

p.G543D

c.1628G>A

5 papers

NM_000228.3

p.G543_P544insFs

c.1629_1630insG

1 paper

NM_000228.3

p.G543delFs

c.1628delC

1 paper

NM_000228.3

p.D547del1

c.1639_1640delGTC

2 papers

NM_000228.3

p.K548delFs

c.1644delC

1 paper

NM_000228.3

p.G551D

c.1652G>A

1 paper

NM_000228.3

p.C553fs

c.1657_1658fs

1 paper

NM_000228.3

p.C553delFs

c.1657delA