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

13 papers

NM_002292.4

p.S80R

c.240T>G

Surrounding Variants

13 papers

NM_002292.4

p.S80R

c.240T>A

13 papers

NM_002292.4

p.S80R

c.238A>C

6 papers

NM_002292.4

p.V79del1

c.235_236delGAC

1 paper

NM_002292.4

p.I78delFs

c.234delG

1 paper

NM_002292.4

p.I78fs

c.232_233fs

1 paper

NM_002292.4

p.Q83_D84Splc

c.249+1G>A

4 papers

NM_002292.4

p.P75delFs

c.225delG

4 papers

NM_002292.4

p.Y76fs

c.226_227fs

2 papers

NM_002292.4

p.Q74insFs

c.220_221insC

1 paper

NM_002292.4

p.G72D

c.215G>A

1 paper

NM_002292.4

p.L70L

c.210G>A

1 paper

NM_002292.4

p.L62insFs

c.185_186insA