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.V1018fs

c.3052_3053fs

Surrounding Variants

1 paper

NM_000228.3

p.V1018delFs

c.3054delA

2 papers

NM_000228.3

p.V1018fs

c.3052_3053fs

1 paper

NM_000228.3

p.V1018I

c.3052G>A

2 papers

NM_000228.3

p.E1017_V1018Splc

c.3052-1G>A

1 paper

NM_000228.3

p.E1017_V1018Splc

c.3052-3A>G

1 paper

NM_000228.3

p.V1021L

c.3061G>T

1 paper

NM_000228.3

p.V1021L

c.3061G>C

1 paper

NM_000228.3

p.E1017_V1018Splc

c.3052-5C>G

4 papers

NM_000228.3

p.R1023Q

c.3068G>A

1 paper

NM_000228.3

p.K1027*

c.3079A>T

1 paper

NM_000228.3

p.T1030A

c.3088A>G

1 paper

NM_000228.3

p.L1036M

c.3106C>A