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.L245P

c.734T>C

Surrounding Variants

17 papers

NM_002292.4

p.R246W

c.736C>T

24 papers

NM_002292.4

p.R246Q

c.737G>A

1 paper

NM_002292.4

p.I242F

c.724A>T

2 papers

NM_002292.4

p.L249delins

c.746_747delinsAG

2 papers

NM_002292.4

p.L249delins

c.745_747delinsTGG

1 paper

NM_002292.4

p.R251C

c.751C>T

1 paper

NM_002292.4

p.N238Splc

c.713-10C>G

2 papers

NM_002292.4

p.L260H

c.779T>A

1 paper

NM_002292.4

p.R263Q

c.788G>A

1 paper

NM_002292.4

p.R267*

c.799C>T

1 paper

NM_002292.4

p.R267Q

c.800G>A

5 papers

NM_002292.4

p.L274P

c.821T>C