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.C493fs

c.1477_1478fs

Surrounding Variants

3 papers

NM_002292.4

p.C493delFs

c.1478delC

5 papers

NM_002292.4

p.C493delFs

c.1477delA

1 paper

NM_002292.4

p.C493S

c.1477T>A

2 papers

NM_002292.4

p.C493fs

c.1477_1478fs

2 papers

NM_002292.4

p.G501_C502delFs

c.1503_1504delAT

4 papers

NM_002292.4

p.C502*

c.1506T>A

1 paper

NM_002292.4

p.C484*

c.1452T>A

1 paper

NM_002292.4

p.R475Q

c.1424G>A

1 paper

NM_002292.4

p.A474T

c.1420G>A

3 papers

NM_002292.4

p.R469Q

c.1406G>A

1 paper

NM_002292.4

p.R469*

c.1405C>T

1 paper

NM_002292.4

p.R469Splc

c.1405+3A>T