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.G1328Splc

c.3982+1G>T

Surrounding Variants

4 papers

NM_002292.4

p.G1328R

c.3982G>C

3 papers

NM_002292.4

p.N1325_F1326insFs

c.3975_3976insA

1 paper

NM_002292.4

p.N1325fs

c.3973_3974fs

1 paper

NM_002292.4

p.T1310P

c.3928A>C

4 papers

NM_002292.4

p.G1328R

c.3982G>C

1 paper

NM_002292.4

p.G1328A

c.3983G>C

1 paper

NM_002292.4

p.R1302*

c.3904C>T

3 papers

NM_002292.4

p.E1301delFs

c.3902delT

1 paper

NM_002292.4

p.E1301fs

c.3901_3902fs

1 paper

NM_002292.4

p.R1334Q

c.4001G>A

1 paper

NM_002292.4

p.V1286V

c.3858G>T

1 paper

NM_002292.4

p.Q1278*

c.3832C>T