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.F1194F

c.3582C>T

Surrounding Variants

1 paper

NM_002292.4

p.C1187Y

c.3560G>A

1 paper

NM_002292.4

p.Q1202*

c.3604C>T

1 paper

NM_002292.4

p.P1185S

c.3553C>T

1 paper

NM_002292.4

p.A1205T

c.3613G>A

1 paper

NM_002292.4

p.A1206V

c.3617C>T

2 papers

NM_002292.4

p.R1178_F1180del3

c.3532_3539del9

1 paper

NM_002292.4

p.Q1209*

c.3625C>T

1 paper

NM_002292.4

p.Q1175H

c.3525G>T

1 paper

NM_002292.4

p.Q1175H

c.3525G>C

1 paper

NM_002292.4

p.R1214Q

c.3641G>A

1 paper

NM_002292.4

p.A1215A

c.3645G>A

1 paper

NM_002292.4

p.C1173Y

c.3518G>A