Varaico: Literature-Extracted Genetic Variants

LAMB1

267 papers

RefSeq Summary

Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including ...

Pfam Domains

Laminin_Naa 35–269UCSCLaminin N-terminal (Domain VI)

EGF_lamininaa 271–332UCSCLaminin EGF domain

EGF_lamininaa 335–395UCSCLaminin EGF domain

EGF_lamininaa 398–455UCSCLaminin EGF domain

EGF_lamininaa 458–507UCSCLaminin EGF domain

EGF_lamininaa 510–554UCSCLaminin EGF domain

Gene Aliases

HGNC Name

laminin subunit beta 1

HGNC Previous Symbol

CLM

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002291.3

p.S967*

c.2900C>G

Surrounding Variants

1 paper

NM_002291.3

p.S967*

c.2900C>A

1 paper

NM_002291.3

p.G964D

c.2891G>A

1 paper

NM_002291.3

p.G971G

c.2913G>A

1 paper

NM_002291.3

p.Q974E

c.2920C>G

1 paper

NM_002291.3

p.Q974H

c.2922G>T

1 paper

NM_002291.3

p.Q974H

c.2922G>C

1 paper

NM_002291.3

p.P975S

c.2923C>T

3 papers

NM_002291.3

p.Q977fs

c.2929_2930fs

4 papers

NM_002291.3

p.D957N

c.2869G>A

1 paper

NM_002291.3

p.N981I

c.2942A>T

1 paper

NM_002291.3

p.T984R

c.2951C>G

5 papers

NM_002291.3

p.Q1022R

c.3065A>G