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

1–12 of 325 variants

16 papers

NM_005562.3

p.R95*

c.283C>T

9 papers

NM_005562.3

p.T124M

c.371C>T

8 papers

NM_005562.3

p.Q46*

c.136C>T

7 papers

NM_005562.3

p.C553*

c.1659C>A

6 papers

NM_005562.3

p.L10insFs

c.29_30insC

6 papers

NM_005562.3

p.D247E

c.741C>A

6 papers

NM_005562.3

p.D247E

c.741C>G

5 papers

NM_005562.3

p.M1insFs

c.2dupT

5 papers

NM_005562.3

p.R347C

c.1039C>T

5 papers

NM_005562.3

p.R349*

c.1045C>T

5 papers

NM_005562.3

p.Q864*

c.2590C>T

4 papers

NM_005562.3

p.R154_C155insFs

c.462_463insT