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.C564R

c.1690T>C

Surrounding Variants

1 paper

NM_000228.3

p.Q566*

c.1696C>T

1 paper

NM_000228.3

p.T560delFs

c.1679delG

1 paper

NM_000228.3

p.Q568*

c.1702C>T

1 paper

NM_000228.3

p.Q568K

c.1702C>A

1 paper

NM_000228.3

p.Q568H

c.1704G>T

1 paper

NM_000228.3

p.Q568H

c.1704G>C

13 papers

NM_000228.3

p.R569*

c.1705C>T

3 papers

NM_000228.3

p.R556H

c.1667G>A

2 papers

NM_000228.3

p.C572C

c.1716T>C

1 paper

NM_000228.3

p.C553*

c.1659C>A

1 paper

NM_000228.3

p.C553delFs

c.1657delA

1 paper

NM_000228.3

p.C553fs

c.1657_1658fs