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.L319L

c.955T>C

Surrounding Variants

1 paper

NM_005562.3

p.N325K

c.975T>A

1 paper

NM_005562.3

p.S328fs

c.982_983fs

1 paper

NM_005562.3

p.S328N

c.983G>A

1 paper

NM_005562.3

p.S328delFs

c.984delC

1 paper

NM_005562.3

p.P329S

c.985C>T

1 paper

NM_005562.3

p.F334_E335delFs

c.1000_1003del4

1 paper

NM_005562.3

p.R337*

c.1009C>T

1 paper

NM_005562.3

p.R337R

c.1011A>T

5 papers

NM_005562.3

p.R347C

c.1039C>T

5 papers

NM_005562.3

p.R349*

c.1045C>T

3 papers

NM_005562.3

p.Y355*

c.1065C>A

3 papers

NM_005562.3

p.Y355*

c.1065C>G