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.P181S

c.541C>T

Surrounding Variants

1 paper

NM_005562.3

p.N180S

c.539A>G

1 paper

NM_005562.3

p.G178E

c.533G>A

3 papers

NM_005562.3

p.Q186*

c.556C>T

1 paper

NM_005562.3

p.G191A

c.572G>C

1 paper

NM_005562.3

p.R170Q

c.509G>A

2 papers

NM_005562.3

p.R170*

c.508C>T

2 papers

NM_005562.3

p.R197C

c.589C>T

1 paper

NM_005562.3

p.R197H

c.590G>A

1 paper

NM_005562.3

p.S198R

c.592A>C

1 paper

NM_005562.3

p.A200T

c.598G>A

2 papers

NM_005562.3

p.A200E

c.599C>A

1 paper

NM_005562.3

p.A200insFs

c.600dupA