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.C321S

c.961T>A

Surrounding Variants

19 papers

NM_002292.4

p.C321R

c.961T>C

9 papers

NM_002292.4

p.C324R

c.970T>C

1 paper

NM_002292.4

p.R317C

c.949C>T

1 paper

NM_002292.4

p.H314Q

c.942C>G

1 paper

NM_002292.4

p.H314Q

c.942C>A

1 paper

NM_002292.4

p.C312insFs

c.935dupG

1 paper

NM_002292.4

p.L331L

c.991C>T

1 paper

NM_002292.4

p.I311V

c.931A>G

1 paper

NM_002292.4

p.C310Y

c.929G>A

2 papers

NM_002292.4

p.C310R

c.928T>C

1 paper

NM_002292.4

p.P335S

c.1003C>T

1 paper

NM_002292.4

p.D338D

c.1014C>T