Varaico: Literature-Extracted Genetic Variants

LAMB2

371 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 47–281UCSCLaminin N-terminal (Domain VI)

EGF_lamininaa 283–344UCSCLaminin EGF domain

EGF_LMN_ATRNaa 347–402UCSCLaminin/attractin EGF domain

EGF_lamininaa 410–467UCSCLaminin EGF domain

EGF_lamininaa 470–519UCSCLaminin EGF domain

EGF_lamininaa 522–565UCSCLaminin EGF domain

Gene Aliases

HGNC Name

laminin subunit beta 2

HGNC Previous Symbol

LAMS

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002292.4

p.A59V

c.176C>T

Surrounding Variants

1 paper

NM_002292.4

p.A59D

c.176C>A

1 paper

NM_002292.4

p.R58*

c.172C>T

1 paper

NM_002292.4

p.R61K

c.182G>A

1 paper

NM_002292.4

p.L62insFs

c.185_186insA

1 paper

NM_002292.4

p.D53N

c.157G>A

2 papers

NM_002292.4

p.Y48S

c.143A>C

1 paper

NM_002292.4

p.L70L

c.210G>A

1 paper

NM_002292.4

p.G72D

c.215G>A

1 paper

NM_002292.4

p.R44M

c.131G>T

1 paper

NM_002292.4

p.R44K

c.131G>A

2 papers

NM_002292.4

p.Q74insFs

c.220_221insC

4 papers

NM_002292.4

p.P75delFs

c.225delG