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.S212P

c.634T>C

Surrounding Variants

1 paper

NM_002292.4

p.E210K

c.628G>A

1 paper

NM_002292.4

p.R205_S207delins

c.614_621delinsTT

3 papers

NM_002292.4

p.S207P

c.619T>C

1 paper

NM_002292.4

p.S204F

c.611C>T

1 paper

NM_002292.4

p.R195W

c.583C>T

1 paper

NM_002292.4

p.P190fs

c.568_569fs

1 paper

NM_002292.4

p.D181N

c.541G>A

9 papers

NM_002292.4

p.S179F

c.536C>T

1 paper

NM_002292.4

p.F178S

c.533T>C

1 paper

NM_002292.4

p.R176*

c.526C>T

1 paper

NM_002292.4

p.W172_H173del1

c.515_517delGCC

1 paper

NM_002292.4

p.V221M

c.661G>A