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.Q1049*

c.3145C>T

Surrounding Variants

1 paper

NM_000228.3

p.R1047C

c.3139C>T

1 paper

NM_000228.3

p.Q1053*

c.3157C>T

1 paper

NM_000228.3

p.G1054R

c.3160G>C

1 paper

NM_000228.3

p.G1054R

c.3160G>A

1 paper

NM_000228.3

p.M1043I

c.3129G>A

1 paper

NM_000228.3

p.A1055fs

c.3163_3164fs

1 paper

NM_000228.3

p.A1055delFs

c.3163delC

3 papers

NM_000228.3

p.R1042W

c.3124C>T

10 papers

NM_000228.3

p.W1040*

c.3120G>A

11 papers

NM_000228.3

p.W1040*

c.3119G>A

1 paper

NM_000228.3

p.L1036M

c.3106C>A

1 paper

NM_000228.3

p.Q1062L

c.3185A>T