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

10 papers

NM_002292.4

p.Q1507*

c.4519C>T

Surrounding Variants

3 papers

NM_002292.4

p.R1502delFs

c.4504delT

1 paper

NM_002292.4

p.R1502fs

c.4504_4505fs

1 paper

NM_002292.4

p.L1512delFs

c.4534delG

2 papers

NM_002292.4

p.Q1513*

c.4537C>T

3 papers

NM_002292.4

p.Q1525Splc

c.4573+1G>A

1 paper

NM_002292.4

p.E1486insFs

c.4456dupG

1 paper

NM_002292.4

p.R1482W

c.4444C>T

1 paper

NM_002292.4

p.Q1525Splc

c.4573+26A>G

1 paper

NM_002292.4

p.E1462Q

c.4384G>C

1 paper

NM_002292.4

p.Q1460*

c.4378C>T

2 papers

NM_002292.4

p.R1457Q

c.4370G>A

1 paper

NM_002292.4

p.A1446V

c.4337C>T