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.M775I

c.2325G>A

Surrounding Variants

1 paper

NM_005562.3

p.M775I

c.2325G>C

1 paper

NM_005562.3

p.M775I

c.2325G>T

1 paper

NM_005562.3

p.L778Q

c.2333T>A

1 paper

NM_005562.3

p.D784N

c.2350G>A

1 paper

NM_005562.3

p.S767Splc

c.2301-12T>G

1 paper

NM_005562.3

p.A796delFs

c.2388delC

1 paper

NM_005562.3

p.A796V

c.2387C>T

1 paper

NM_005562.3

p.L797M

c.2389C>A

1 paper

NM_005562.3

p.G804R

c.2410G>A

1 paper

NM_005562.3

p.G804R

c.2410G>C

4 papers

NM_005562.3

p.P808A

c.2422C>G

1 paper

NM_005562.3

p.G810S

c.2428G>A