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.R95Q

c.284G>A

Surrounding Variants

16 papers

NM_005562.3

p.R95*

c.283C>T

1 paper

NM_005562.3

p.D97E

c.291C>A

1 paper

NM_005562.3

p.G100R

c.298G>A

1 paper

NM_005562.3

p.G100R

c.298G>C

1 paper

NM_005562.3

p.G100E

c.299G>A

2 papers

NM_005562.3

p.R101W

c.301C>T

1 paper

NM_005562.3

p.A111P

c.331G>C

1 paper

NM_005562.3

p.R112I

c.335G>T

1 paper

NM_005562.3

p.D114H

c.340G>C

1 paper

NM_005562.3

p.R115*

c.343C>T

1 paper

NM_005562.3

p.R115Q

c.344G>A

3 papers

NM_005562.3

p.P118L

c.353C>T