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.T675M

c.2024C>T

Surrounding Variants

1 paper

NM_000228.3

p.L676S

c.2027T>C

1 paper

NM_000228.3

p.E672G

c.2015A>G

1 paper

NM_000228.3

p.L671delFs

c.2011delG

3 papers

NM_000228.3

p.P679L

c.2036C>T

1 paper

NM_000228.3

p.D668_P670delFs

c.2003_2009del7

1 paper

NM_000228.3

p.L678_D681delins

c.2033_2041delinsCTT

1 paper

NM_000228.3

p.L669L

c.2005C>T

1 paper

NM_000228.3

p.L682L

c.2044C>T

1 paper

NM_000228.3

p.E683_S684delFs

c.2049_2050delTC

1 paper

NM_000228.3

p.Q663H

c.1989G>T

1 paper

NM_000228.3

p.Q663H

c.1989G>C

6 papers

NM_000228.3

p.N690S

c.2069A>G