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.G1239D

c.3716G>A

Surrounding Variants

1 paper

NM_002292.4

p.G1243R

c.3727G>C

1 paper

NM_002292.4

p.H1233Y

c.3697C>T

1 paper

NM_002292.4

p.R1248fs

c.3742_3743fs

1 paper

NM_002292.4

p.L1258V

c.3772C>G

1 paper

NM_002292.4

p.Q1220*

c.3658C>T

1 paper

NM_002292.4

p.E1260fs

c.3778_3779fs

2 papers

NM_002292.4

p.E1260_A1261delFs

c.3780_3781delCC

1 paper

NM_002292.4

p.A1215A

c.3645G>A

1 paper

NM_002292.4

p.E1264K

c.3790G>A

1 paper

NM_002292.4

p.R1214Q

c.3641G>A

2 papers

NM_002292.4

p.R1266Splc

c.3797+4C>T

4 papers

NM_002292.4

p.R1266Splc

c.3797+5G>A