Varaico: Literature-Extracted Genetic Variants

LAMC2

278 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

EGF_lamininaa 28–81UCSCLaminin EGF domain

EGF_lamininaa 84–129UCSCLaminin EGF domain

EGF_lamininaa 139–184UCSCLaminin EGF domain

Laminin_Baa 250–380UCSCLaminin B (Domain IV)

EGF_lamininaa 377–413UCSCLaminin EGF domain

EGF_lamininaa 462–514UCSCLaminin EGF domain

Gene Aliases

HGNC Name

laminin subunit gamma 2

HGNC Previous Symbols

EBR2; LAMB2T; LAMNB2; EBR2A

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005562.3

p.P525S

c.1573C>T

Surrounding Variants

1 paper

NM_005562.3

p.D524insFs

c.1571_1572insC

2 papers

NM_005562.3

p.A527T

c.1579G>A

1 paper

NM_005562.3

p.C517delFs

c.1549delT

1 paper

NM_005562.3

p.G536G

c.1608C>T

1 paper

NM_005562.3

p.C538delFs

c.1614delT

1 paper

NM_005562.3

p.H508D

c.1522C>G

4 papers

NM_005562.3

p.A546D

c.1637C>A

1 paper

NM_005562.3

p.C550delFs

c.1649delG

1 paper

NM_005562.3

p.C550*

c.1650C>A

1 paper

NM_005562.3

p.C553delFs

c.1657delT

1 paper

NM_005562.3

p.A497delFs

c.1490delC

1 paper

NM_005562.3

p.C553fs

c.1657_1658fs