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

5 papers

NM_002292.4

p.A1765T

c.5293G>A

Surrounding Variants

2 papers

NM_002292.4

p.A1771T

c.5311G>A

1 paper

NM_002292.4

p.E1754fs

c.5260_5261fs

1 paper

NM_002292.4

p.R1781H

c.5342G>A

3 papers

NM_002292.4

p.Q1790*

c.5368C>T

1 paper

NM_002292.4

p.Y1794C

c.5381A>G

1 paper

NM_002292.4

p.T1796P

c.5386A>C

1 paper

NM_002292.4

p.C1797delins

c.5389delinsACCCCCT

1 paper

NM_002292.4

p.C1797F

c.5390G>T

1 paper

NM_002292.4

p.Q1798fs

c.5392_5393fs

1 paper

NM_002292.4

p.Q1798delFs

c.5394delC

5 papers

NM_002292.4

p.Q1753insFs

c.5258dupA

2 papers

NM_002292.4

p.Q1750*

c.5248C>T