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.R20_R24delFs

c.58_70del13

Surrounding Variants

1 paper

NM_005562.3

p.R20W

c.58C>T

1 paper

NM_005562.3

p.R20ins1

c.59_60insGTA

1 paper

NM_005562.3

p.A18delins

c.53delinsA

1 paper

NM_005562.3

p.E26*

c.76G>T

2 papers

NM_005562.3

p.V27I

c.79G>A

1 paper

NM_005562.3

p.C11R

c.31T>C

6 papers

NM_005562.3

p.L10insFs

c.29_30insC

1 paper

NM_005562.3

p.G7_C8delFs

c.21_22delCT

1 paper

NM_005562.3

p.W5G

c.13T>G

1 paper

NM_005562.3

p.L4insFs

c.11_12insA

1 paper

NM_005562.3

p.A3A

c.9G>C

1 paper

NM_005562.3

p.M1I

c.3G>A