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.V817L

c.2449G>C

Surrounding Variants

1 paper

NM_005562.3

p.V817L

c.2449G>T

1 paper

NM_005562.3

p.V817V

c.2451G>A

1 paper

NM_005562.3

p.G815E

c.2444G>A

1 paper

NM_005562.3

p.G815R

c.2443G>A

1 paper

NM_005562.3

p.G815R

c.2443G>C

1 paper

NM_005562.3

p.Q814*

c.2440C>T

1 paper

NM_005562.3

p.V812A

c.2435T>C

1 paper

NM_005562.3

p.A811G

c.2432C>G

1 paper

NM_005562.3

p.G810G

c.2430T>C

1 paper

NM_005562.3

p.G810S

c.2428G>A

4 papers

NM_005562.3

p.P808A

c.2422C>G

1 paper

NM_005562.3

p.G804R

c.2410G>A