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.S1394C

c.4181C>G

Surrounding Variants

9 papers

NM_002292.4

p.L1393F

c.4177C>T

1 paper

NM_002292.4

p.T1397I

c.4190C>T

1 paper

NM_002292.4

p.L1400fs

c.4198_4199fs

1 paper

NM_002292.4

p.R1388Q

c.4163G>A

1 paper

NM_002292.4

p.A1385delFs

c.4153delC

1 paper

NM_002292.4

p.M1384K

c.4151T>A

4 papers

NM_002292.4

p.N1380K

c.4140C>G

5 papers

NM_002292.4

p.N1380K

c.4140C>A

1 paper

NM_002292.4

p.L1408_V1409Splc

c.4224+19G>A

3 papers

NM_002292.4

p.D1373G

c.4118A>G

1 paper

NM_002292.4

p.S1361W

c.4082C>G

1 paper

NM_002292.4

p.P1413delFs

c.4239delT