Varaico: Literature-Extracted Genetic Variants

LAMC1

228 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

Laminin_Naa 50–284UCSCLaminin N-terminal (Domain VI)

EGF_LMN_ATRNaa 286–332UCSCLaminin/attractin EGF domain

EGF_lamininaa 342–395UCSCLaminin EGF domain

EGF_lamininaa 398–442UCSCLaminin EGF domain

EGF_lamininaa 445–492UCSCLaminin EGF domain

Laminin_Baa 558–688UCSCLaminin B (Domain IV)

Gene Aliases

HGNC Name

laminin subunit gamma 1

HGNC Previous Name

laminin, gamma 1 (formerly LAMB2)

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

6 papers

NM_002293.4

p.E1266K

c.3796G>A

Surrounding Variants

1 paper

NM_002293.4

p.G1261S

c.3781G>A

1 paper

NM_002293.4

p.V1271M

c.3811G>A

1 paper

NM_002293.4

p.A1260A

c.3780C>G

2 papers

NM_002293.4

p.P1276R

c.3827C>G

2 papers

NM_002293.4

p.E1255A

c.3764A>C

1 paper

NM_002293.4

p.L1282insFs

c.3845dupT

1 paper

NM_002293.4

p.L1282V

c.3844C>G

1 paper

NM_002293.4

p.E1283fs

c.3847_3848fs

1 paper

NM_002293.4

p.A1239V

c.3716C>T

1 paper

NM_002293.4

p.N1233T

c.3698A>C

1 paper

NM_002293.4

p.N1233Y

c.3697A>T

1 paper

NM_002293.4

p.T1218T

c.3654A>G