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.R115Q

c.344G>A

Surrounding Variants

1 paper

NM_005562.3

p.R115*

c.343C>T

1 paper

NM_005562.3

p.D114H

c.340G>C

3 papers

NM_005562.3

p.P118L

c.353C>T

1 paper

NM_005562.3

p.R112I

c.335G>T

1 paper

NM_005562.3

p.G119C

c.355G>T

1 paper

NM_005562.3

p.A111P

c.331G>C

1 paper

NM_005562.3

p.H121insFs

c.363dupC

1 paper

NM_005562.3

p.M122fs

c.364_365fs

1 paper

NM_005562.3

p.L123F

c.367C>T

1 paper

NM_005562.3

p.L123_D125Fs

c.368_373delinsACCACFs

1 paper

NM_005562.3

p.T124_D125del2

c.370_374del6

9 papers

NM_005562.3

p.T124M

c.371C>T