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.K824insFs

c.2470_2471insG

Surrounding Variants

4 papers

NM_005562.3

p.K822*

c.2464A>T

1 paper

NM_005562.3

p.A827V

c.2480C>T

1 paper

NM_005562.3

p.A834T

c.2500G>A

1 paper

NM_005562.3

p.S854L

c.2561C>T

1 paper

NM_005562.3

p.R857W

c.2569C>T

2 papers

NM_005562.3

p.R857P

c.2570G>C

1 paper

NM_005562.3

p.Q859delFs

c.2576delA

5 papers

NM_005562.3

p.Q864*

c.2590C>T

1 paper

NM_005562.3

p.Q867*

c.2599C>T

1 paper

NM_005562.3

p.V817V

c.2451G>A

1 paper

NM_005562.3

p.V817L

c.2449G>C

1 paper

NM_005562.3

p.V817L

c.2449G>T