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.G90Splc

c.268+14A>G

Surrounding Variants

1 paper

NM_005562.3

p.C81fs

c.241_242fs

1 paper

NM_005562.3

p.C81_L82delFs

c.242_246del5

1 paper

NM_005562.3

p.K67M

c.200A>T

3 papers

NM_005562.3

p.E66K

c.196G>A

1 paper

NM_005562.3

p.E66*

c.196G>T

1 paper

NM_005562.3

p.D58_N70del13

c.172_209del39

2 papers

NM_005562.3

p.C56insFs

c.167_168insT

8 papers

NM_005562.3

p.Q46*

c.136C>T

1 paper

NM_005562.3

p.H44_R45delFs

c.132_135del4

1 paper

NM_005562.3

p.E42delFs

c.124_125delGA

1 paper

NM_005562.3

p.D40N

c.118G>A

1 paper

NM_005562.3

p.I38L

c.112A>C