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.R154H

c.461G>A

Surrounding Variants

4 papers

NM_005562.3

p.R154_C155insFs

c.462_463insT

1 paper

NM_005562.3

p.R154C

c.460C>T

2 papers

NM_005562.3

p.C155insFs

c.464_465insT

4 papers

NM_005562.3

p.R165C

c.493C>T

1 paper

NM_005562.3

p.C166_D167insFs

c.497_501dup5

1 paper

NM_005562.3

p.C166insFs

c.497_498insA

1 paper

NM_005562.3

p.D140E

c.420C>G

1 paper

NM_005562.3

p.D140H

c.418G>C

1 paper

NM_005562.3

p.R168Splc

c.503+6T>C

1 paper

NM_005562.3

p.L135Splc

c.405-1G>A

2 papers

NM_005562.3

p.R170*

c.508C>T

1 paper

NM_005562.3

p.R170Q

c.509G>A