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

2 papers

NM_005562.3

p.P227S

c.679C>T

Surrounding Variants

3 papers

NM_005562.3

p.R223*

c.667C>T

1 paper

NM_005562.3

p.A220delFs

c.658delG

1 paper

NM_005562.3

p.W218R

c.652T>A

1 paper

NM_005562.3

p.W218R

c.652T>C

1 paper

NM_005562.3

p.D216insFs

c.646_647insTT

1 paper

NM_005562.3

p.S242_L246del5

c.724_737del15

3 papers

NM_005562.3

p.R245*

c.733C>T

6 papers

NM_005562.3

p.D247E

c.741C>A

6 papers

NM_005562.3

p.D247E

c.741C>G

1 paper

NM_005562.3

p.Y250fs

c.748_749fs

2 papers

NM_005562.3

p.A255Splc

c.763+2T>C

1 paper

NM_005562.3

p.D214Splc

c.641-71A>C